{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,7]],"date-time":"2026-10-07T04:52:47Z","timestamp":1791348767700,"version":"4.3.1"},"reference-count":193,"publisher":"MDPI AG","issue":"11","license":[{"start":{"date-parts":[[2024,10,30]],"date-time":"2024-10-30T00:00:00Z","timestamp":1730246400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100000780","name":"European Union\u2014NextGenerationEU\u2014NRRP M6C2\u2014Investment: 2.1, \u201cEnhancement and strengthening of biomedical research within the NSH\u201d","doi-asserted-by":"publisher","award":["PNRR-MR1-2022-12376108"],"award-info":[{"award-number":["PNRR-MR1-2022-12376108"]}],"id":[{"id":"10.13039\/501100000780","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Genes"],"abstract":"<jats:p>Neuromuscular disorders (NMDs) encompass a broad range of hereditary and acquired conditions that affect motor units, significantly impacting patients\u2019 quality of life and reproductive health. This narrative review aims to explore in detail the reproductive challenges associated with major hereditary NMDs, including Charcot\u2013Marie\u2013Tooth disease (CMT), dystrophinopathies, Myotonic Dystrophy (DM), Facioscapulohumeral Muscular Dystrophy (FSHD), Spinal Muscular Atrophy (SMA), Limb\u2013Girdle Muscular Dystrophy (LGMD), and Amyotrophic Lateral Sclerosis (ALS). Specifically, it discusses the stages of diagnosis and genetic testing, recurrence risk estimation, options for preimplantation genetic testing (PGT) and prenatal diagnosis (PND), the reciprocal influence between pregnancy and disease, potential obstetric complications, and risks to the newborn.<\/jats:p>","DOI":"10.3390\/genes15111409","type":"journal-article","created":{"date-parts":[[2024,10,31]],"date-time":"2024-10-31T06:55:37Z","timestamp":1730357737000},"page":"1409","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":9,"title":["Hereditary Neuromuscular Disorders in Reproductive Medicine"],"prefix":"10.3390","volume":"15","author":[{"given":"Agnese","family":"Luglio","sequence":"first","affiliation":[{"name":"Medical Genetics Unit, IRCCS Azienda Ospedaliero-Universitaria di Bologna, 40138 Bologna, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Elena","family":"Maggi","sequence":"additional","affiliation":[{"name":"Clinica Eugin Modena, 41126 Modena, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Francesco Nicola","family":"Riviello","sequence":"additional","affiliation":[{"name":"U.O.C. Laboratorio di Genetica Medica, PO Di Venere-ASL Bari, 70012 Bari, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5676-0055","authenticated-orcid":false,"given":"Alessandro","family":"Conforti","sequence":"additional","affiliation":[{"name":"Department of Neuroscience, Reproductive Science and Odontostomatology, University of Naples Federico II, 80131 Naples, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-8139-6198","authenticated-orcid":false,"given":"Ugo","family":"Sorrentino","sequence":"additional","affiliation":[{"name":"Department of Women\u2019s and Children\u2019s Health, University Hospital of Padova, Via Giustiniani 3, 35128 Padova, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5826-6715","authenticated-orcid":false,"given":"Daniela","family":"Zuccarello","sequence":"additional","affiliation":[{"name":"Unit of Medical Genetics and Genomics, San Bortolo Hospital, ULSS n.8 \u201cBerica\u201d, 36100 Vicenza, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2024,10,30]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","unstructured":"Carey, I.M., Banchoff, E., Nirmalananthan, N., Harris, T., DeWilde, S., Chaudhry, U.A.R., and Cook, D.G. (2021). Prevalence and Incidence of Neuromuscular Conditions in the UK between 2000 and 2019: A Retrospective Study Using Primary Care Data. PLoS ONE, 16.","DOI":"10.1371\/journal.pone.0261983"},{"key":"ref_2","doi-asserted-by":"crossref","first-page":"241","DOI":"10.1016\/j.nmd.2022.12.013","article-title":"Patient Reported Pregnancy and Birth Outcomes in Genetic Neuromuscular Diseases","volume":"33","author":"Moore","year":"2023","journal-title":"Neuromuscul. Disord."},{"key":"ref_3","doi-asserted-by":"crossref","first-page":"1821","DOI":"10.1080\/09638288.2020.1804628","article-title":"\u201cI Was Worried About Not Being Good Enough\u201d. Experiences and Perspectives on Pregnancy, Childbirth and Parenthood When Living with a Neuromuscular Disorder\u2014An Exploration of Everyday Life Challenges","volume":"44","author":"Handberg","year":"2022","journal-title":"Disabil. Rehabil."},{"key":"ref_4","doi-asserted-by":"crossref","first-page":"787","DOI":"10.1002\/mus.27242","article-title":"The Birth of Informed Decisions: Pregnancy and Muscular Dystrophy","volume":"63","author":"Mandeville","year":"2021","journal-title":"Muscle Nerve"},{"key":"ref_5","doi-asserted-by":"crossref","first-page":"460","DOI":"10.1055\/s-2007-991122","article-title":"Neuromuscular Diseases in Pregnancy","volume":"27","author":"Briemberg","year":"2007","journal-title":"Semin. Neurol."},{"key":"ref_6","doi-asserted-by":"crossref","first-page":"153","DOI":"10.1016\/j.ejogrb.2012.02.020","article-title":"Pregnancy Course and Outcome in Women with Hereditary Neuromuscular Disorders: Comparison of Obstetric Risks in 178 Patients","volume":"162","author":"Awater","year":"2012","journal-title":"Eur. J. Obstet. Gynecol. Reprod. Biol."},{"key":"ref_7","doi-asserted-by":"crossref","first-page":"183","DOI":"10.1016\/j.nmd.2011.05.009","article-title":"179th ENMC International Workshop: Pregnancy in Women with Neuromuscular Disorders 5-7 November 2010, Naarden, The Netherlands","volume":"22","author":"Norwood","year":"2012","journal-title":"Neuromuscul. Disord."},{"key":"ref_8","doi-asserted-by":"crossref","first-page":"128","DOI":"10.1111\/j.1399-0004.1994.tb04009.x","article-title":"The Charcot-Marie-Tooth Syndrome: Clinical Aspects from a Population Study in South Wales, UK","volume":"45","author":"MacMillan","year":"1994","journal-title":"Clin. Genet."},{"key":"ref_9","doi-asserted-by":"crossref","first-page":"98","DOI":"10.1111\/j.1399-0004.1974.tb00638.x","article-title":"Genetic and Clinical Aspects of Charcot-Marie-Tooth\u2019s Disease","volume":"6","author":"Skre","year":"1974","journal-title":"Clin. Genet."},{"key":"ref_10","unstructured":"Bird, T.D. (2024). Charcot-Marie-Tooth Hereditary Neuropathy Overview. GeneReviews, University of Washington."},{"key":"ref_11","first-page":"235","article-title":"The Genetics of Charcot\u2013Marie\u2013Tooth Disease: Current Trends and Future Implications for Diagnosis and Management","volume":"8","author":"Isfort","year":"2015","journal-title":"Appl. Clin. Genet."},{"key":"ref_12","doi-asserted-by":"crossref","first-page":"273","DOI":"10.1590\/0004-282x20180021","article-title":"Pain in Charcot-Marie-Tooth Disease: An Update","volume":"76","author":"Azevedo","year":"2018","journal-title":"Arq. Neuropsiquiatr."},{"key":"ref_13","doi-asserted-by":"crossref","first-page":"1491","DOI":"10.1007\/s00415-004-0578-x","article-title":"Clinical Disease Severity and Axonal Dysfunction in Hereditary Motor and Sensory Neuropathy Ia","volume":"251","author":"Verhamme","year":"2004","journal-title":"J. Neurol."},{"key":"ref_14","doi-asserted-by":"crossref","first-page":"829","DOI":"10.1136\/jnnp.2007.137679","article-title":"Increased Prevalence of Obstructive Sleep Apnoea in Patients with Charcot-Marie-Tooth Disease: A Case Control Study","volume":"79","author":"Dziewas","year":"2008","journal-title":"J. Neurol. Neurosurg. Psychiatry"},{"key":"ref_15","doi-asserted-by":"crossref","first-page":"478","DOI":"10.1136\/thx.43.6.478","article-title":"Diaphragm Weakness in Charcot-Marie-Tooth Disease","volume":"43","author":"Laroche","year":"1988","journal-title":"Thorax"},{"key":"ref_16","doi-asserted-by":"crossref","first-page":"628","DOI":"10.1097\/PHM.0b013e31821f6e32","article-title":"Outcome Measures and Rehabilitation Treatment in Patients Affected by Charcot-Marie-Tooth Neuropathy: A Pilot Study","volume":"90","author":"Maggi","year":"2011","journal-title":"Am. J. Phys. Med. Rehabil."},{"key":"ref_17","doi-asserted-by":"crossref","first-page":"775","DOI":"10.1016\/j.neurol.2016.06.007","article-title":"Hereditary Neuropathies: An Update","volume":"172","author":"Stojkovic","year":"2016","journal-title":"Rev. Neurol."},{"key":"ref_18","doi-asserted-by":"crossref","first-page":"873","DOI":"10.1136\/jnnp-2014-308826","article-title":"CMT Subtypes and Disease Burden in Patients Enrolled in the Inherited Neuropathies Consortium Natural History Study: A Cross-Sectional Analysis","volume":"86","author":"Fridman","year":"2015","journal-title":"J. Neurol. Neurosurg. Psychiatry"},{"key":"ref_19","doi-asserted-by":"crossref","first-page":"647","DOI":"10.1016\/j.nmd.2013.05.005","article-title":"Charcot-Marie-Tooth Disease: Frequency of Genetic Subtypes in a German Neuromuscular Center Population","volume":"23","author":"Gess","year":"2013","journal-title":"Neuromuscul. Disord."},{"key":"ref_20","doi-asserted-by":"crossref","first-page":"3","DOI":"10.1007\/BF03401724","article-title":"Charcot-Marie-Tooth Disease: Lessons in Genetic Mechanisms","volume":"4","author":"Lupski","year":"1998","journal-title":"Mol. Med."},{"key":"ref_21","doi-asserted-by":"crossref","first-page":"18","DOI":"10.1016\/j.jns.2015.05.037","article-title":"Molecular and Clinical Features of Inherited Neuropathies Due to PMP22 Duplication","volume":"355","author":"Watila","year":"2015","journal-title":"J. Neurol. Sci."},{"key":"ref_22","first-page":"551","article-title":"Ins and Outs of Peripheral Myelin Protein-22: Mapping Transmembrane Topology and Intracellular Sorting","volume":"49","year":"1998","journal-title":"J. Neurosie Res."},{"key":"ref_23","doi-asserted-by":"crossref","first-page":"1531","DOI":"10.1111\/j.1471-4159.2004.02987.x","article-title":"Impaired Proteasome Activity and Accumulation of Ubiquitinated Substrates in a Hereditary Neuropathy Model","volume":"92","author":"Fortun","year":"2005","journal-title":"J. Neurochem."},{"key":"ref_24","doi-asserted-by":"crossref","first-page":"198","DOI":"10.1016\/j.brainres.2012.03.068","article-title":"How Do Mutations in GJB1 Cause X-Linked Charcot-Marie-Tooth Disease?","volume":"1487","author":"Kleopa","year":"2012","journal-title":"Brain Res."},{"key":"ref_25","doi-asserted-by":"crossref","first-page":"362","DOI":"10.1002\/(SICI)1098-1004(1996)8:4<362::AID-HUMU10>3.0.CO;2-0","article-title":"Absence of PMP22 Coding Region Mutations in CMT1A Duplication Patients: Further Evidence Supporting Gene Dosage as a Mechanism for Charcot-Marie-Tooth Disease Type 1A","volume":"8","author":"Warner","year":"1996","journal-title":"Hum. Mutat."},{"key":"ref_26","doi-asserted-by":"crossref","first-page":"435","DOI":"10.1016\/S0896-6273(00)80176-2","article-title":"Crystal Structure of the Extracellular Domain from P0, the Major Structural Protein of Peripheral Nerve Myelin","volume":"17","author":"Shapiro","year":"1996","journal-title":"Neuron"},{"key":"ref_27","doi-asserted-by":"crossref","first-page":"449","DOI":"10.1038\/ng1341","article-title":"Mutations in the Mitochondrial GTPase Mitofusin 2 Cause Charcot-Marie-Tooth Neuropathy Type 2A","volume":"36","author":"Mersiyanova","year":"2004","journal-title":"Nat. Genet."},{"key":"ref_28","doi-asserted-by":"crossref","first-page":"23","DOI":"10.1093\/brain\/awr323","article-title":"The MFN2 Gene Is Responsible for Mitochondrial DNA Instability and Optic Atrophy \u201cplus\u201d Phenotype","volume":"135","author":"Rouzier","year":"2012","journal-title":"Brain"},{"key":"ref_29","doi-asserted-by":"crossref","first-page":"706","DOI":"10.1136\/jnnp-2012-302451","article-title":"Charcot-Marie-Tooth Disease: Frequency of Genetic Subtypes and Guidelines for Genetic Testing","volume":"83","author":"Murphy","year":"2012","journal-title":"J. Neurol. Neurosurg. Psychiatry"},{"key":"ref_30","doi-asserted-by":"crossref","first-page":"562","DOI":"10.1038\/nrneurol.2013.179","article-title":"Clinical Implications of Genetic Advances in Charcot-Marie-Tooth Disease","volume":"9","author":"Rossor","year":"2013","journal-title":"Nat. Rev. Neurol."},{"key":"ref_31","doi-asserted-by":"crossref","first-page":"206","DOI":"10.1002\/ana.24303","article-title":"A Comprehensive Genomic Approach for Neuromuscular Diseases Gives a High Diagnostic Yield","volume":"77","author":"Ankala","year":"2015","journal-title":"Ann. Neurol."},{"key":"ref_32","doi-asserted-by":"crossref","first-page":"102","DOI":"10.1111\/j.1529-8027.2011.00332.x","article-title":"Phenotype Expression in Women with CMT1X","volume":"16","author":"Siskind","year":"2011","journal-title":"J. Peripher. Nerv. Syst."},{"key":"ref_33","doi-asserted-by":"crossref","first-page":"728","DOI":"10.1002\/mus.25077","article-title":"Charcot\u2013Marie\u2013Tooth Disease Type 1x in Women: Electrodiagnostic Findings","volume":"54","author":"Jerath","year":"2016","journal-title":"Muscle Nerve"},{"key":"ref_34","doi-asserted-by":"crossref","first-page":"hoad010","DOI":"10.1093\/hropen\/hoad010","article-title":"ESHRE PGT Consortium Data Collection XXI: PGT Analyses in 2018","volume":"2023","author":"Spinella","year":"2023","journal-title":"Hum Reprod Open"},{"key":"ref_35","doi-asserted-by":"crossref","first-page":"429","DOI":"10.1093\/molehr\/gag054","article-title":"Preimplantation Genetic Diagnosis for Charcot-Marie-Tooth Disease Type 1A","volume":"9","author":"Sermon","year":"2003","journal-title":"Mol. Hum. Reprod."},{"key":"ref_36","doi-asserted-by":"crossref","first-page":"163","DOI":"10.5653\/cerm.2013.40.4.163","article-title":"Preimplantation Genetic Diagnosis for Charcot-Marie-Tooth Disease","volume":"40","author":"Lee","year":"2013","journal-title":"Clin. Exp. Reprod. Med."},{"key":"ref_37","doi-asserted-by":"crossref","first-page":"e22196","DOI":"10.1016\/j.heliyon.2023.e22196","article-title":"Clinical Practice and Outcomes of Preimplantation Genetic Testing for CMT1A Using a Novel Direct Detection Method","volume":"9","author":"Wang","year":"2023","journal-title":"Heliyon"},{"key":"ref_38","doi-asserted-by":"crossref","first-page":"1390","DOI":"10.1111\/ene.14317","article-title":"Pregnancy Outcome in Charcot-Marie-Tooth Disease: Results of the CMT-NET Cohort Study in Germany","volume":"27","author":"Thiele","year":"2020","journal-title":"Eur. J. Neurol."},{"key":"ref_39","doi-asserted-by":"crossref","first-page":"e3180","DOI":"10.1212\/WNL.0000000000010860","article-title":"Pregnancy in Charcot-Marie-Tooth Disease: Data from the Italian CMT National Registry","volume":"95","author":"Pisciotta","year":"2020","journal-title":"Neurology"},{"key":"ref_40","doi-asserted-by":"crossref","first-page":"83","DOI":"10.1177\/1753495X221107328","article-title":"Pregnancy and Delivery in Patients with Charcot-Marie-Tooth Disease and Related Disorders","volume":"16","author":"Skorupinska","year":"2023","journal-title":"Obstet. Med."},{"key":"ref_41","doi-asserted-by":"crossref","first-page":"459","DOI":"10.1212\/01.WNL.0000150933.65709.96","article-title":"Pregnancies and Deliveries in Patients with Charcot-Marie-Tooth Disease","volume":"64","author":"Hoff","year":"2005","journal-title":"Neurology"},{"key":"ref_42","doi-asserted-by":"crossref","first-page":"13","DOI":"10.1038\/s41572-021-00248-3","article-title":"Duchenne Muscular Dystrophy","volume":"7","author":"Duan","year":"2021","journal-title":"Nat. Rev. Dis. Primers"},{"key":"ref_43","doi-asserted-by":"crossref","first-page":"671","DOI":"10.1016\/j.ncl.2014.05.002","article-title":"Duchenne and Becker Muscular Dystrophies","volume":"32","author":"Flanigan","year":"2014","journal-title":"Neurol. Clin."},{"key":"ref_44","doi-asserted-by":"crossref","first-page":"1162","DOI":"10.1002\/pd.6201","article-title":"Large Scale Population Screening for Duchenne Muscular Dystrophy\u2014Predictable and Unpredictable Challenges","volume":"42","author":"Cohen","year":"2022","journal-title":"Prenat. Diagn."},{"key":"ref_45","doi-asserted-by":"crossref","first-page":"913","DOI":"10.1002\/pd.1031","article-title":"Prenatal Diagnosis of DMD in a Female Foetus Affected by Turner Syndrome","volume":"24","author":"Satre","year":"2004","journal-title":"Prenat. Diagn."},{"key":"ref_46","doi-asserted-by":"crossref","first-page":"176","DOI":"10.1016\/j.pedneo.2017.02.004","article-title":"The Natural History of the Patients with Duchenne Muscular Dystrophy in Taiwan: A Medical Center Experience","volume":"59","author":"Liang","year":"2018","journal-title":"Pediatr. Neonatol."},{"key":"ref_47","doi-asserted-by":"crossref","first-page":"926","DOI":"10.1016\/S0960-8966(02)00140-2","article-title":"Survival in Duchenne Muscular Dystrophy: Improvements in Life Expectancy since 1967 and the Impact of Home Nocturnal Ventilation","volume":"12","author":"Eagle","year":"2002","journal-title":"Neuromuscul. Disord."},{"key":"ref_48","doi-asserted-by":"crossref","first-page":"E2304","DOI":"10.1212\/WNL.0000000000012910","article-title":"Life Expectancy in Duchenne Muscular Dystrophy: Reproduced Individual Patient Data Meta-Analysis","volume":"97","author":"Broomfield","year":"2021","journal-title":"Neurology"},{"key":"ref_49","doi-asserted-by":"crossref","first-page":"190","DOI":"10.1016\/0022-510X(91)90068-I","article-title":"Serum Creatine-Kinase (CK) and Pyruvate-Kinase (PK) Activities in Duchenne (DMD) as Compared with Becker (BMD) Muscular Dystrophy","volume":"102","author":"Zatz","year":"1991","journal-title":"J. Neurol. Sci."},{"key":"ref_50","doi-asserted-by":"crossref","first-page":"1363","DOI":"10.1056\/NEJM198805263182104","article-title":"Characterization of Dystrophin in Muscle-Biopsy Specimens from Patients with Duchenne\u2019s or Becker\u2019s Muscular Dystrophy","volume":"318","author":"Hoffman","year":"1988","journal-title":"N. Engl. J. Med."},{"key":"ref_51","doi-asserted-by":"crossref","first-page":"329","DOI":"10.1097\/00001573-199705000-00015","article-title":"Dystrophies and Heart Disease","volume":"12","author":"Cox","year":"1997","journal-title":"Curr. Opin. Cardiol."},{"key":"ref_52","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1159\/000068446","article-title":"The Heart in Human Dystrophinopathies","volume":"99","author":"Finsterer","year":"2003","journal-title":"Cardiology"},{"key":"ref_53","doi-asserted-by":"crossref","first-page":"921","DOI":"10.1056\/NEJM199309233291304","article-title":"Brief Report: Deletion of the Dystrophin Muscle-Promoter Region Associated with X-Linked Dilated Cardiomyopathy","volume":"329","author":"Muntoni","year":"1993","journal-title":"N. Engl. J. Med."},{"key":"ref_54","doi-asserted-by":"crossref","first-page":"2116","DOI":"10.1016\/S0140-6736(98)10028-4","article-title":"Signs and Symptoms of Duchenne Muscular Dystrophy and Becker Muscular Dystrophy among Carriers in the Netherlands: A Cohort Study","volume":"353","author":"Hoogerwaard","year":"1999","journal-title":"Lancet"},{"key":"ref_55","doi-asserted-by":"crossref","first-page":"499","DOI":"10.1016\/j.nmd.2010.05.010","article-title":"Clinical and Genetic Characterization of Manifesting Carriers of DMD Mutations","volume":"20","author":"Soltanzadeh","year":"2010","journal-title":"Neuromuscul. Disord."},{"key":"ref_56","first-page":"3035","article-title":"Clinical and Genetic Characteristics of Female Dystrophinopathy Carriers","volume":"19","author":"Zhong","year":"2019","journal-title":"Mol. Med. Rep."},{"key":"ref_57","doi-asserted-by":"crossref","first-page":"526","DOI":"10.1016\/j.jcmg.2012.09.017","article-title":"CMR Detects Subclinical Cardiomyopathy in Mother-Carriers of Duchenne and Becker Muscular Dystrophy","volume":"6","author":"Mavrogeni","year":"2013","journal-title":"JACC Cardiovasc. Imaging"},{"key":"ref_58","doi-asserted-by":"crossref","first-page":"326","DOI":"10.1093\/ehjci\/jev161","article-title":"Cardiac Involvement in Female Duchenne and Becker Muscular Dystrophy Carriers in Comparison to Their First-Degree Male Relatives: A Comparative Cardiovascular Magnetic Resonance Study","volume":"17","author":"Florian","year":"2016","journal-title":"Eur. Heart J. Cardiovasc. Imaging"},{"key":"ref_59","doi-asserted-by":"crossref","first-page":"74","DOI":"10.1016\/j.jns.2017.12.024","article-title":"Detection and Management of Cardiomyopathy in Female Dystrophinopathy Carriers","volume":"386","author":"Adachi","year":"2018","journal-title":"J. Neurol. Sci."},{"key":"ref_60","doi-asserted-by":"crossref","first-page":"145","DOI":"10.1136\/jmedgenet-2015-103387","article-title":"The Importance of Genetic Diagnosis for Duchenne Muscular Dystrophy","volume":"53","author":"Ginjaar","year":"2016","journal-title":"J. Med. Genet."},{"key":"ref_61","doi-asserted-by":"crossref","first-page":"1657","DOI":"10.1002\/humu.21114","article-title":"Mutational Spectrum of DMD Mutations in Dystrophinopathy Patients: Application of Modern Diagnostic Techniques to a Large Cohort","volume":"30","author":"Flanigan","year":"2009","journal-title":"Hum. Mutat."},{"key":"ref_62","doi-asserted-by":"crossref","first-page":"379","DOI":"10.1038\/jhg.2010.49","article-title":"Mutation Spectrum of the Dystrophin Gene in 442 Duchenne\/Becker Muscular Dystrophy Cases from One Japanese Referral Center","volume":"55","author":"Takeshima","year":"2010","journal-title":"J. Hum. Genet."},{"key":"ref_63","doi-asserted-by":"crossref","first-page":"18168","DOI":"10.3390\/molecules201018168","article-title":"Duchenne Muscular Dystrophy: From Diagnosis to Therapy","volume":"20","author":"Falzarano","year":"2015","journal-title":"Molecules"},{"key":"ref_64","doi-asserted-by":"crossref","first-page":"1141","DOI":"10.1038\/s41431-020-0643-7","article-title":"EMQN Best Practice Guidelines for Genetic Testing in Dystrophinopathies","volume":"28","author":"Fratter","year":"2020","journal-title":"Eur. J. Hum. Genet."},{"key":"ref_65","doi-asserted-by":"crossref","first-page":"189","DOI":"10.1007\/s10528-012-9554-9","article-title":"Improved Detection of Deletions and Duplications in the DMD Gene Using the Multiplex Ligation-Dependent Probe Amplification (MLPA) Method","volume":"51","year":"2013","journal-title":"Biochem. Genet."},{"key":"ref_66","doi-asserted-by":"crossref","first-page":"1013","DOI":"10.1007\/s00438-014-0847-z","article-title":"Whole Dystrophin Gene Analysis by Next-Generation Sequencing: A Comprehensive Genetic Diagnosis of Duchenne and Becker Muscular Dystrophy","volume":"289","author":"Wang","year":"2014","journal-title":"Mol. Genet. Genom."},{"key":"ref_67","doi-asserted-by":"crossref","first-page":"1793","DOI":"10.1038\/s41436-021-01203-z","article-title":"Screening for Autosomal Recessive and X-Linked Conditions during Pregnancy and Preconception: A Practice Resource of the American College of Medical Genetics and Genomics (ACMG)","volume":"23","author":"Gregg","year":"2021","journal-title":"Genet. Med."},{"key":"ref_68","doi-asserted-by":"crossref","first-page":"175675","DOI":"10.1016\/j.ejphar.2023.175675","article-title":"Duchenne Muscular Dystrophy: Current Treatment and Emerging Exon Skipping and Gene Therapy Approach","volume":"947","author":"Patterson","year":"2023","journal-title":"Eur. J. Pharmacol."},{"key":"ref_69","doi-asserted-by":"crossref","first-page":"345","DOI":"10.1089\/hum.2023.29242.ddu","article-title":"Duchenne Muscular Dystrophy Gene Therapy in 2023: Status, Perspective, and Beyond","volume":"34","author":"Duan","year":"2023","journal-title":"Hum. Gene Ther."},{"key":"ref_70","doi-asserted-by":"crossref","first-page":"1979","DOI":"10.1007\/s10815-021-02126-z","article-title":"Clinical Application of an NGS-Based Method in the Preimplantation Genetic Testing for Duchenne Muscular Dystrophy","volume":"38","author":"Ren","year":"2021","journal-title":"J. Assist. Reprod. Genet."},{"key":"ref_71","doi-asserted-by":"crossref","first-page":"1200","DOI":"10.1002\/pd.1317","article-title":"Preimplantation Genetic Diagnosis (PGD) for Duchenne Muscular Dystrophy (DMD) by Triplex-Nested PCR","volume":"25","author":"Malcov","year":"2005","journal-title":"Prenat. Diagn."},{"key":"ref_72","doi-asserted-by":"crossref","first-page":"402","DOI":"10.1002\/mus.28201","article-title":"Sexual Health and Fertility in Duchenne Muscular Dystrophy-An Exploratory Study","volume":"70","author":"Hoskin","year":"2024","journal-title":"Muscle Nerve"},{"key":"ref_73","doi-asserted-by":"crossref","first-page":"1045","DOI":"10.1212\/WNL.28.10.1045","article-title":"Reproduction in Duchenne Dystrophy","volume":"28","author":"Thompson","year":"1978","journal-title":"Neurology"},{"key":"ref_74","doi-asserted-by":"crossref","first-page":"e230245","DOI":"10.1530\/EC-23-0245","article-title":"Is Ongoing Testosterone Required after Pubertal Induction in Duchenne Muscular Dystrophy?","volume":"12","author":"Wood","year":"2023","journal-title":"Endocr. Connect."},{"key":"ref_75","doi-asserted-by":"crossref","first-page":"27","DOI":"10.1002\/ajmg.1320600106","article-title":"Why Is the Reproductive Performance Lower in Becker (BMD) as Compared to Limb Girdle (LGMD) Muscular Dystrophy Male Patients?","volume":"60","author":"Eggers","year":"1995","journal-title":"Am. J. Med. Genet."},{"key":"ref_76","doi-asserted-by":"crossref","first-page":"371","DOI":"10.1055\/s-0035-1563696","article-title":"Testosterone Treatment of Pubertal Delay in Duchenne Muscular Dystrophy","volume":"46","author":"Wood","year":"2015","journal-title":"Neuropediatrics"},{"key":"ref_77","doi-asserted-by":"crossref","unstructured":"Yuko, S.M., Yoko, A., Norio, M., Nandkishore, R.B., Michael, G.B., and Atsushi, A. (2015). Pregnancy-Induced Amelioration of Muscular Dystrophy Phenotype in Mdx Mice via Muscle Membrane Stabilization Effect of Glucocorticoid. PLoS ONE, 10.","DOI":"10.1371\/journal.pone.0120325"},{"key":"ref_78","doi-asserted-by":"crossref","first-page":"781","DOI":"10.1016\/S1053-2498(00)00240-0","article-title":"Cardiomyopathy in a Carrier of Duchenne\u2019s Muscular Dystrophy","volume":"20","author":"Davies","year":"2001","journal-title":"J. Heart Lung Transpl."},{"key":"ref_79","doi-asserted-by":"crossref","first-page":"677","DOI":"10.1016\/j.hlc.2012.11.015","article-title":"Peripartum Cardiomyopathy in a Previously Asymptomatic Carrier of Duchenne Muscular Dystrophy","volume":"22","author":"Cheng","year":"2013","journal-title":"Heart Lung Circ."},{"key":"ref_80","doi-asserted-by":"crossref","first-page":"913","DOI":"10.1002\/mus.24744","article-title":"A Carrier with de Novo Mutation in the Dystrophin Gene Whose Myopathic Symptoms Became Seriously Progressive after Pregnancy and Delivery","volume":"52","author":"Hori","year":"2015","journal-title":"Muscle Nerve"},{"key":"ref_81","doi-asserted-by":"crossref","first-page":"233","DOI":"10.1056\/NEJMoa1505517","article-title":"Shared Genetic Predisposition in Peripartum and Dilated Cardiomyopathies","volume":"374","author":"Ware","year":"2016","journal-title":"N. Engl. J. Med."},{"key":"ref_82","doi-asserted-by":"crossref","first-page":"685","DOI":"10.1007\/s00439-016-1666-6","article-title":"Determining the Role of Skewed X-Chromosome Inactivation in Developing Muscle Symptoms in Carriers of Duchenne Muscular Dystrophy","volume":"135","author":"Viggiano","year":"2016","journal-title":"Hum. Genet."},{"key":"ref_83","doi-asserted-by":"crossref","first-page":"163","DOI":"10.1159\/000524734","article-title":"Global Prevalence of Myotonic Dystrophy: An Updated Systematic Review and Meta-Analysis","volume":"56","author":"Liao","year":"2022","journal-title":"Neuroepidemiology"},{"key":"ref_84","doi-asserted-by":"crossref","first-page":"599","DOI":"10.1097\/WCO.0000000000000128","article-title":"Myotonic Dystrophy: Diagnosis, Management and New Therapies","volume":"27","author":"Turner","year":"2014","journal-title":"Curr. Opin. Neurol."},{"key":"ref_85","doi-asserted-by":"crossref","first-page":"891","DOI":"10.1016\/S1474-4422(12)70204-1","article-title":"The Myotonic Dystrophies: Molecular, Clinical, and Therapeutic Challenges","volume":"11","author":"Udd","year":"2012","journal-title":"Lancet Neurol."},{"key":"ref_86","doi-asserted-by":"crossref","unstructured":"Wenninger, S., Montagnese, F., and Schoser, B. (2018). Core Clinical Phenotypes in Myotonic Dystrophies. Front. Neurol., 9.","DOI":"10.3389\/fneur.2018.00303"},{"key":"ref_87","doi-asserted-by":"crossref","first-page":"68","DOI":"10.1002\/pd.1627","article-title":"Prenatal Diagnosis in Myotonic Dystrophy Type 1. Thirteen Years of Experience: Implications for Reproductive Counselling in DM1 Families","volume":"27","author":"Martorell","year":"2007","journal-title":"Prenat. Diagn."},{"key":"ref_88","unstructured":"Bird, T.D. (2024). Myotonic Dystrophy Type 1. GeneReviews, University of Washington."},{"key":"ref_89","doi-asserted-by":"crossref","first-page":"1081","DOI":"10.1212\/01.WNL.0000118206.49652.A3","article-title":"Leukocyte CTG Repeat Length Correlates with Severity of Myotonia in Myotonic Dystrophy Type 1","volume":"62","author":"Logigian","year":"2004","journal-title":"Neurology"},{"key":"ref_90","doi-asserted-by":"crossref","first-page":"1868","DOI":"10.1093\/brain\/awh210","article-title":"Homozygosity for CCTG Mutation in Myotonic Dystrophy Type 2","volume":"127","author":"Schoser","year":"2004","journal-title":"Brain"},{"key":"ref_91","doi-asserted-by":"crossref","first-page":"1203","DOI":"10.1038\/ejhg.2012.108","article-title":"Best Practice Guidelines and Recommendations on the Molecular Diagnosis of Myotonic Dystrophy Types 1 and 2","volume":"20","author":"Kamsteeg","year":"2012","journal-title":"Eur. J. Hum. Genet."},{"key":"ref_92","doi-asserted-by":"crossref","first-page":"1218","DOI":"10.1212\/WNL.54.6.1218","article-title":"New Nomenclature and DNA Testing Guidelines for Myotonic Dystrophy Type 1 (DM1). The International Myotonic Dystrophy Consortium (IDMC)","volume":"54","author":"Ashizawa","year":"2000","journal-title":"Neurology"},{"key":"ref_93","doi-asserted-by":"crossref","first-page":"895","DOI":"10.1093\/molehr\/7.9.895","article-title":"The Development of Preimplantation Genetic Diagnosis for Myotonic Dystrophy Using Multiplex Fluorescent Polymerase Chain Reaction and Its Clinical Application","volume":"7","author":"Dean","year":"2001","journal-title":"Mol. Hum. Reprod."},{"key":"ref_94","doi-asserted-by":"crossref","unstructured":"Lian, M., Lee, C.G., and Chong, S.S. (2019). Robust Preimplantation Genetic Testing Strategy for Myotonic Dystrophy Type 1 by Bidirectional Triplet-Primed Polymerase Chain Reaction Combined with Multi-Microsatellite Haplotyping Following Whole-Genome Amplification. Front. Genet., 10.","DOI":"10.3389\/fgene.2019.00589"},{"key":"ref_95","doi-asserted-by":"crossref","first-page":"45","DOI":"10.1002\/mrd.23307","article-title":"Study of Expression of Genes Potentially Responsible for Reduced Fitness in Patients with Myotonic Dystrophy Type 1 and Identification of New Biomarkers of Testicular Function","volume":"87","author":"Ergoli","year":"2020","journal-title":"Mol. Reprod. Dev."},{"key":"ref_96","doi-asserted-by":"crossref","first-page":"375","DOI":"10.1007\/BF03350681","article-title":"Hypothalamic-Pituitary-Testicular Function in 70 Patients with Myotonic Dystrophy","volume":"13","author":"Vazquez","year":"1990","journal-title":"J. Endocrinol. Invest."},{"key":"ref_97","first-page":"106","article-title":"Hypogonadism and Erectile Dysfunction in Myotonic Dystrophy Type 1","volume":"32","author":"Peric","year":"2013","journal-title":"Acta Myol."},{"key":"ref_98","doi-asserted-by":"crossref","first-page":"175","DOI":"10.1093\/humrep\/dei310","article-title":"Myotonic Dystrophy: Does It Affect Ovarian Follicular Status and Responsiveness to Controlled Ovarian Stimulation?","volume":"21","author":"Feyereisen","year":"2006","journal-title":"Hum. Reprod."},{"key":"ref_99","doi-asserted-by":"crossref","first-page":"14","DOI":"10.1177\/1753495X18824238","article-title":"Myotonic Disorders and Pregnancy","volume":"13","author":"Morton","year":"2020","journal-title":"Obstet. Med."},{"key":"ref_100","doi-asserted-by":"crossref","first-page":"447","DOI":"10.3233\/JND-150095","article-title":"The Impact of Pregnancy on Myotonic Dystrophy: A Registry-Based Study","volume":"2","author":"Johnson","year":"2015","journal-title":"J. Neuromuscul. Dis."},{"key":"ref_101","doi-asserted-by":"crossref","first-page":"44","DOI":"10.1016\/j.ejogrb.2003.11.025","article-title":"Outcome in Pregnancies Complicated by Myotonic Dystrophy: A Study of 31 Patients and Review of the Literature","volume":"114","author":"Zerres","year":"2004","journal-title":"Eur. J. Obstet. Gynecol. Reprod. Biol."},{"key":"ref_102","doi-asserted-by":"crossref","first-page":"657","DOI":"10.1212\/01.WNL.0000054481.84978.F9","article-title":"Myotonic Dystrophy Type 2: Molecular, Diagnostic and Clinical Spectrum","volume":"60","author":"Day","year":"2003","journal-title":"Neurology"},{"key":"ref_103","doi-asserted-by":"crossref","first-page":"675","DOI":"10.1016\/j.nmd.2009.07.004","article-title":"What We Do Not Know about Pregnancy in Hereditary Neuromuscular Disorders","volume":"19","author":"Argov","year":"2009","journal-title":"Neuromuscul. Disord."},{"key":"ref_104","doi-asserted-by":"crossref","first-page":"30","DOI":"10.1089\/gte.2005.9.30","article-title":"Facioscapulohumeral Muscular Dystrophy Type 1A in Northwestern Tuscany: A Molecular Genetics-Based Epidemiological and Genotype-Phenotype Study","volume":"9","author":"Pasquali","year":"2005","journal-title":"Genet. Test."},{"key":"ref_105","doi-asserted-by":"crossref","first-page":"550","DOI":"10.1111\/j.1399-0004.2009.01158.x","article-title":"Pietro Facioscapulohumeral Muscular Dystrophy: Epidemiological and Molecular Study in a North-East Italian Population Sample","volume":"75","author":"Mostacciuolo","year":"2009","journal-title":"Clin. Genet."},{"key":"ref_106","doi-asserted-by":"crossref","first-page":"1056","DOI":"10.1212\/WNL.0000000000000797","article-title":"Population-Based Incidence and Prevalence of Facioscapulohumeral Dystrophy","volume":"83","author":"Deenen","year":"2014","journal-title":"Neurology"},{"key":"ref_107","doi-asserted-by":"crossref","first-page":"357","DOI":"10.1212\/WNL.0000000000001783","article-title":"Evidence-Based Guideline Summary: Evaluation, Diagnosis, and Management of Facioscapulohumeral Muscular Dystrophy: Report of the Guideline Development, Dissemination, and Implementation Subcommittee of the American Academy of Neurology and the Practice Issues Review Panel of the American Association of Neuromuscular & Electrodiagnostic Medicine","volume":"85","author":"Tawil","year":"2015","journal-title":"Neurology"},{"key":"ref_108","doi-asserted-by":"crossref","first-page":"66","DOI":"10.1007\/s11910-016-0667-0","article-title":"Facioscapulohumeral Dystrophy","volume":"16","author":"Wang","year":"2016","journal-title":"Curr. Neurol. Neurosci. Rep."},{"key":"ref_109","unstructured":"Preston, M.K., Tawil, R., and Wang, L.H. (2020). Facioscapulohumeral Muscular Dystrophy. GeneReviews, University of Washington."},{"key":"ref_110","doi-asserted-by":"crossref","first-page":"S140","DOI":"10.1097\/00002060-199509001-00007","article-title":"Profiles of Neuromuscular Diseases. Facioscapulohumeral Muscular Dystrophy","volume":"74","author":"Kilmer","year":"1995","journal-title":"Am. J. Phys. Med. Rehabil."},{"key":"ref_111","doi-asserted-by":"crossref","first-page":"553","DOI":"10.1016\/j.nmd.2006.06.008","article-title":"Severe Phenotype in Infantile Facioscapulohumeral Muscular Dystrophy","volume":"16","author":"Klinge","year":"2006","journal-title":"Neuromuscul. Disord."},{"key":"ref_112","doi-asserted-by":"crossref","first-page":"368","DOI":"10.1002\/mus.20344","article-title":"Facioscapulohumeral Dystrophy Presenting as Infantile Facial Diplegia and Late-Onset Limb-Girdle Myopathy in Members of the Same Family","volume":"32","author":"Felice","year":"2005","journal-title":"Muscle Nerve"},{"key":"ref_113","doi-asserted-by":"crossref","first-page":"559","DOI":"10.1016\/j.nmd.2006.06.012","article-title":"Severe Fascioscapulohumeral Muscular Dystrophy Presenting with Coats\u2019 Disease and Mental Retardation","volume":"16","author":"Bindoff","year":"2006","journal-title":"Neuromuscul. Disord."},{"key":"ref_114","doi-asserted-by":"crossref","first-page":"178","DOI":"10.1212\/01.WNL.0000078889.51444.81","article-title":"D4F104S1 Deletion in Facioscapulohumeral Muscular Dystrophy: Phenotype, Size, and Detection","volume":"61","author":"Lemmers","year":"2003","journal-title":"Neurology"},{"key":"ref_115","doi-asserted-by":"crossref","first-page":"26","DOI":"10.1086\/302730","article-title":"De Novo Facioscapulohumeral Muscular Dystrophy: Frequent Somatic Mosaicism, Sex-Dependent Phenotype, and the Role of Mitotic Transchromosomal Repeat Interaction between Chromosomes 4 and 10","volume":"66","author":"Deidda","year":"2000","journal-title":"Am. J. Hum. Genet."},{"key":"ref_116","doi-asserted-by":"crossref","first-page":"403","DOI":"10.1016\/j.nmd.2005.02.006","article-title":"Subclinical Cardiac Involvement in Patients with Facioscapulohumeral Muscular Dystrophy","volume":"15","author":"Galetta","year":"2005","journal-title":"Neuromuscul. Disord."},{"key":"ref_117","doi-asserted-by":"crossref","first-page":"1374","DOI":"10.1212\/WNL.0b013e3182a84140","article-title":"Clinical and Genetic Features of Hearing Loss in Facioscapulohumeral Muscular Dystrophy","volume":"81","author":"Lutz","year":"2013","journal-title":"Neurology"},{"key":"ref_118","doi-asserted-by":"crossref","first-page":"1247","DOI":"10.1212\/WNL.0b013e3182897116","article-title":"Coats Syndrome in Facioscapulohumeral Dystrophy Type 1: Frequency and D4Z4 Contraction Size","volume":"80","author":"Statland","year":"2013","journal-title":"Neurology"},{"key":"ref_119","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1159\/000094248","article-title":"Facioscapulohumeral Muscular Dystrophy and Occurrence of Heart Arrhythmia","volume":"56","author":"Trevisan","year":"2006","journal-title":"Eur. Neurol."},{"key":"ref_120","doi-asserted-by":"crossref","first-page":"149","DOI":"10.1111\/cge.14031","article-title":"Facioscapulohumeral Muscular Dystrophy-Reproductive Counseling, Pregnancy, and Delivery in a Complex Multigenetic Disease","volume":"101","author":"Vincenten","year":"2022","journal-title":"Clin. Genet."},{"key":"ref_121","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1002\/mus.20522","article-title":"Facioscapulohumeral Muscular Dystrophy","volume":"34","author":"Tawil","year":"2006","journal-title":"Muscle Nerve"},{"key":"ref_122","doi-asserted-by":"crossref","first-page":"739","DOI":"10.1002\/mus.24218","article-title":"Restrictive Lung Involvement in Facioscapulohumeral Muscular Dystrophy","volume":"50","author":"Scully","year":"2014","journal-title":"Muscle Nerve"},{"key":"ref_123","doi-asserted-by":"crossref","first-page":"632","DOI":"10.1016\/j.nmd.2015.04.011","article-title":"Respiratory Muscle Dysfunction in Facioscapulohumeral Muscular Dystrophy","volume":"25","author":"Santos","year":"2015","journal-title":"Neuromuscul. Disord."},{"key":"ref_124","doi-asserted-by":"crossref","first-page":"2766","DOI":"10.1038\/emboj.2008.201","article-title":"An Isogenetic Myoblast Expression Screen Identifies DUX4-Mediated FSHD-Associated Molecular Pathologies","volume":"27","author":"Bosnakovski","year":"2008","journal-title":"EMBO J."},{"key":"ref_125","doi-asserted-by":"crossref","first-page":"1650","DOI":"10.1126\/science.1189044","article-title":"A Unifying Genetic Model for Facioscapulohumeral Muscular Dystrophy","volume":"329","author":"Lemmers","year":"2010","journal-title":"Science"},{"key":"ref_126","doi-asserted-by":"crossref","first-page":"844","DOI":"10.1016\/j.nmd.2016.09.015","article-title":"A Complex Interplay of Genetic and Epigenetic Events Leads to Abnormal Expression of the DUX4 Gene in Facioscapulohumeral Muscular Dystrophy","volume":"26","author":"Gatica","year":"2016","journal-title":"Neuromuscul. Disord."},{"key":"ref_127","doi-asserted-by":"crossref","first-page":"1548","DOI":"10.1212\/WNL.0b013e3181f96175","article-title":"Clinical Features of Facioscapulohumeral Muscular Dystrophy 2(CME)","volume":"75","author":"Lemmers","year":"2010","journal-title":"Neurology"},{"key":"ref_128","doi-asserted-by":"crossref","first-page":"1020","DOI":"10.1016\/j.ajhg.2016.03.013","article-title":"Mutations in DNMT3B Modify Epigenetic Repression of the D4Z4 Repeat and the Penetrance of Facioscapulohumeral Dystrophy","volume":"98","author":"Lemmers","year":"2016","journal-title":"Am. J. Hum. Genet."},{"key":"ref_129","doi-asserted-by":"crossref","first-page":"233","DOI":"10.1016\/j.tig.2017.01.007","article-title":"The Epigenetic Regulator SMCHD1 in Development and Disease","volume":"33","author":"Jansz","year":"2017","journal-title":"Trends Genet."},{"key":"ref_130","doi-asserted-by":"crossref","first-page":"2822","DOI":"10.1093\/nar\/gkz005","article-title":"SMCHD1 Is Involved in de Novo Methylation of the DUX4-Encoding D4Z4 Macrosatellite","volume":"47","author":"Dion","year":"2019","journal-title":"Nucleic Acids Res."},{"key":"ref_131","doi-asserted-by":"crossref","first-page":"E2441","DOI":"10.1212\/WNL.0000000000009617","article-title":"Homozygous Nonsense Variant in LRIF1 Associated with Facioscapulohumeral Muscular Dystrophy","volume":"94","author":"Hamanaka","year":"2020","journal-title":"Neurology"},{"key":"ref_132","doi-asserted-by":"crossref","first-page":"744","DOI":"10.1016\/j.ajhg.2013.08.004","article-title":"The FSHD2 Gene SMCHD1 Is a Modifier of Disease Severity in Families Affected by FSHD1","volume":"93","author":"Sacconi","year":"2013","journal-title":"Am. J. Hum. Genet."},{"key":"ref_133","doi-asserted-by":"crossref","first-page":"242","DOI":"10.1111\/cge.14250","article-title":"De Novo Variants and Recombination at 4q35: Hints for Preimplantation Genetic Testing in Facioscapulohumeral Muscular Dystrophy","volume":"103","author":"Pini","year":"2023","journal-title":"Clin. Genet."},{"key":"ref_134","doi-asserted-by":"crossref","first-page":"364","DOI":"10.1016\/j.ajhg.2010.01.035","article-title":"Worldwide Population Analysis of the 4q and 10q Subtelomeres Identifies Only Four Discrete Interchromosomal Sequence Transfers in Human Evolution","volume":"86","author":"Lemmers","year":"2010","journal-title":"Am. J. Hum. Genet."},{"key":"ref_135","doi-asserted-by":"crossref","first-page":"44","DOI":"10.1086\/422175","article-title":"Mechanism and Timing of Mitotic Rearrangements in the Subtelomeric D4Z4 Repeat Involved in Facioscapulohumeral Muscular Dystrophy","volume":"75","author":"Lemmers","year":"2004","journal-title":"Am. J. Hum. Genet."},{"key":"ref_136","doi-asserted-by":"crossref","first-page":"1229","DOI":"10.1002\/cphy.c160039","article-title":"Facioscapulohumeral Muscular Dystrophy","volume":"7","author":"DeSimone","year":"2017","journal-title":"Compr. Physiol."},{"key":"ref_137","doi-asserted-by":"crossref","first-page":"463","DOI":"10.1016\/j.nmd.2011.09.004","article-title":"Best Practice Guidelines on Genetic Diagnostics of Facioscapulohumeral Muscular Dystrophy: Workshop 9th June 2010, LUMC, Leiden, The Netherlands","volume":"22","author":"Lemmers","year":"2012","journal-title":"Neuromuscul. Disord."},{"key":"ref_138","doi-asserted-by":"crossref","first-page":"13","DOI":"10.1111\/cge.14533","article-title":"Best Practice Guidelines on Genetic Diagnostics of Facioscapulohumeral Muscular Dystrophy: Update of the 2012 Guidelines","volume":"106","author":"Giardina","year":"2024","journal-title":"Clin. Genet."},{"key":"ref_139","doi-asserted-by":"crossref","first-page":"e614","DOI":"10.1002\/hsr2.614","article-title":"Counseling and Prenatal Diagnosis in Facioscapulohumeral Muscular Dystrophy: A Retrospective Study on a 13-Year Multidisciplinary Approach","volume":"5","author":"Bettio","year":"2022","journal-title":"Health Sci. Rep."},{"key":"ref_140","doi-asserted-by":"crossref","first-page":"256","DOI":"10.1016\/j.nmd.2006.01.008","article-title":"Rapid and Accurate Diagnosis of Facioscapulohumeral Muscular Dystrophy","volume":"16","author":"Goto","year":"2006","journal-title":"Neuromuscul. Disord."},{"key":"ref_141","doi-asserted-by":"crossref","first-page":"533","DOI":"10.1038\/ejhg.2009.207","article-title":"New Multiplex PCR-Based Protocol Allowing Indirect Diagnosis of FSHD on Single Cells: Can PGD Be Offered despite High Risk of Recombination?","volume":"18","author":"Nguyen","year":"2010","journal-title":"Eur. J. Hum. Genet."},{"key":"ref_142","doi-asserted-by":"crossref","first-page":"1887","DOI":"10.1212\/01.wnl.0000244471.05316.19","article-title":"Pregnancy and Birth Outcomes in Women with Facioscapulohumeral Muscular Dystrophy","volume":"67","author":"Ciafaloni","year":"2006","journal-title":"Neurology"},{"key":"ref_143","doi-asserted-by":"crossref","first-page":"888","DOI":"10.1001\/archneur.1997.00550190076017","article-title":"Obstetric Aspects in Women with Facioscapulohumeral Muscular Dystrophy, Limb-Girdle Muscular Dystrophy, and Congenital Myopathies","volume":"54","author":"Glauner","year":"1997","journal-title":"Arch. Neurol."},{"key":"ref_144","doi-asserted-by":"crossref","first-page":"52","DOI":"10.1038\/s41572-022-00380-8","article-title":"Spinal Muscular Atrophy","volume":"8","author":"Mercuri","year":"2022","journal-title":"Nat. Rev. Dis. Primers"},{"key":"ref_145","doi-asserted-by":"crossref","first-page":"124","DOI":"10.1186\/s13023-017-0671-8","article-title":"Prevalence, Incidence and Carrier Frequency of 5q-Linked Spinal Muscular Atrophy\u2014A Literature Review","volume":"12","author":"Verhaart","year":"2017","journal-title":"Orphanet J. Rare Dis."},{"key":"ref_146","first-page":"1","article-title":"Spinal Muscular Atrophy","volume":"6","author":"Mercuri","year":"2011","journal-title":"Orphanet J. Rare Dis."},{"key":"ref_147","first-page":"1","article-title":"Spinal Muscular Atrophy: Untangling the Knot?","volume":"36","author":"Biros","year":"1999","journal-title":"J. Med. Genet."},{"key":"ref_148","doi-asserted-by":"crossref","first-page":"704","DOI":"10.1002\/ana.20473","article-title":"Natural History of Denervation in SMA: Relation to Age, SMN2 Copy Number, and Function","volume":"57","author":"Swoboda","year":"2005","journal-title":"Ann. Neurol."},{"key":"ref_149","doi-asserted-by":"crossref","first-page":"1102","DOI":"10.1086\/301608","article-title":"De Novo Rearrangements Found in 2% of Index Patients with Spinal Muscular Atrophy: Mutational Mechanisms, Parental Origin, Mutation Rate, and Implications for Genetic Counseling","volume":"61","author":"Wirth","year":"1997","journal-title":"Am. J. Hum. Genet."},{"key":"ref_150","doi-asserted-by":"crossref","first-page":"27","DOI":"10.1038\/ejhg.2011.134","article-title":"Pan-Ethnic Carrier Screening and Prenatal Diagnosis for Spinal Muscular Atrophy: Clinical Laboratory Analysis of >72,400 Specimens","volume":"20","author":"Sugarman","year":"2012","journal-title":"Eur. J. Hum. Genet."},{"key":"ref_151","doi-asserted-by":"crossref","first-page":"103","DOI":"10.1016\/j.nmd.2017.11.005","article-title":"Diagnosis and Management of Spinal Muscular Atrophy: Part 1: Recommendations for Diagnosis, Rehabilitation, Orthopedic and Nutritional Care","volume":"28","author":"Mercuri","year":"2018","journal-title":"Neuromuscul. Disord."},{"key":"ref_152","doi-asserted-by":"crossref","first-page":"197","DOI":"10.1016\/j.nmd.2017.11.004","article-title":"Diagnosis and Management of Spinal Muscular Atrophy: Part 2: Pulmonary and Acute Care; Medications, Supplements and Immunizations; Other Organ Systems; and Ethics","volume":"28","author":"Finkel","year":"2018","journal-title":"Neuromuscul. Disord."},{"key":"ref_153","doi-asserted-by":"crossref","unstructured":"Day, J.W., Howell, K., Place, A., Long, K., Rossello, J., Kertesz, N., and Nomikos, G. (2022). Advances and Limitations for the Treatment of Spinal Muscular Atrophy. BMC Pediatr., 22.","DOI":"10.1186\/s12887-022-03671-x"},{"key":"ref_154","doi-asserted-by":"crossref","first-page":"1723","DOI":"10.1056\/NEJMoa1702752","article-title":"Nusinersen versus Sham Control in Infantile-Onset Spinal Muscular Atrophy","volume":"377","author":"Finkel","year":"2017","journal-title":"N. Engl. J. Med."},{"key":"ref_155","doi-asserted-by":"crossref","first-page":"1713","DOI":"10.1056\/NEJMoa1706198","article-title":"Single-Dose Gene-Replacement Therapy for Spinal Muscular Atrophy","volume":"377","author":"Mendell","year":"2017","journal-title":"N. Engl. J. Med."},{"key":"ref_156","doi-asserted-by":"crossref","unstructured":"De Rycke, M., and Berckmoes, V. (2020). Preimplantation Genetic Testing for Monogenic Disorders. Genes, 11.","DOI":"10.3390\/genes11080871"},{"key":"ref_157","first-page":"60","article-title":"Pregnancy Experience in Women with Spinal Muscular Atrophy: A Case Series","volume":"42","author":"Bencivenga","year":"2023","journal-title":"Acta Myol."},{"key":"ref_158","doi-asserted-by":"crossref","first-page":"50","DOI":"10.1016\/j.jns.2018.03.001","article-title":"Pregnancy Outcomes in Women with Spinal Muscular Atrophy: A Review","volume":"388","author":"Abati","year":"2018","journal-title":"J. Neurol. Sci."},{"key":"ref_159","doi-asserted-by":"crossref","first-page":"953","DOI":"10.1080\/00207454.2017.1281273","article-title":"Pregnancy and Delivery in Women with Spinal Muscular Atrophy","volume":"127","author":"Elsheikh","year":"2017","journal-title":"Int. J. Neurosci."},{"key":"ref_160","doi-asserted-by":"crossref","first-page":"7874","DOI":"10.1002\/jcp.27907","article-title":"Prevalence, Pathological Mechanisms, and Genetic Basis of Limb-Girdle Muscular Dystrophies: A Review","volume":"234","author":"Taghizadeh","year":"2019","journal-title":"J. Cell Physiol."},{"key":"ref_161","doi-asserted-by":"crossref","first-page":"1515","DOI":"10.3892\/mmr.2014.2048","article-title":"Limb-Girdle Muscular Dystrophies: Where next after Six Decades from the First Proposal (Review)","volume":"9","author":"Mahmood","year":"2014","journal-title":"Mol. Med. Rep."},{"key":"ref_162","doi-asserted-by":"crossref","unstructured":"Bouchard, C., and Tremblay, J.P. (2023). Limb-Girdle Muscular Dystrophies Classification and Therapies. J. Clin. Med., 12.","DOI":"10.3390\/jcm12144769"},{"key":"ref_163","doi-asserted-by":"crossref","first-page":"1453","DOI":"10.1212\/WNL.0000000000000892","article-title":"Evidence-Based Guideline Summary: Diagnosis and Treatment of Limb-Girdle and Distal Dystrophies: Report of the Guideline Development Subcommittee of the American Academy of Neurology and the Practice Issues Review Panel of the American Association of Neuromuscular & Electrodiagnostic Medicine","volume":"83","author":"Narayanaswami","year":"2014","journal-title":"Neurology"},{"key":"ref_164","doi-asserted-by":"crossref","first-page":"477","DOI":"10.3233\/JND-210771","article-title":"Progression to Loss of Ambulation Among Patients with Autosomal Recessive Limb-Girdle Muscular Dystrophy: A Systematic Review","volume":"9","author":"Audhya","year":"2022","journal-title":"J. Neuromuscul. Dis."},{"key":"ref_165","doi-asserted-by":"crossref","first-page":"44","DOI":"10.1016\/S0022-510X(99)00040-4","article-title":"Sarcoglycanopathies Are Responsible for 68% of Severe Autosomal Recessive Limb-Girdle Muscular Dystrophy in the Brazilian Population","volume":"164","author":"Vainzof","year":"1999","journal-title":"J. Neurol. Sci."},{"key":"ref_166","doi-asserted-by":"crossref","first-page":"238","DOI":"10.1016\/j.bbadis.2006.09.009","article-title":"The Limb-Girdle Muscular Dystrophies\u2014Diagnostic Strategies","volume":"1772","author":"Bushby","year":"2007","journal-title":"Biochim. Biophys. Acta"},{"key":"ref_167","doi-asserted-by":"crossref","first-page":"812","DOI":"10.1002\/mus.27184","article-title":"The Outcomes and Experience of Pregnancy in Limb Girdle Muscular Dystrophy Type R9","volume":"63","author":"Libell","year":"2021","journal-title":"Muscle Nerve"},{"key":"ref_168","doi-asserted-by":"crossref","first-page":"199","DOI":"10.1177\/1753495X18814622","article-title":"Obstetric Management of a Woman with Limb-Girdle Muscular Dystrophy Type 2i and Dilated Cardiomyopathy","volume":"12","author":"Burford","year":"2019","journal-title":"Obstet. Med."},{"key":"ref_169","first-page":"1332","article-title":"Diagnosis and Clinical Management of Amyotrophic Lateral Sclerosis and Other Motor Neuron Disorders","volume":"23","author":"Goutman","year":"2017","journal-title":"Continuum"},{"key":"ref_170","first-page":"57","article-title":"Variation in Worldwide Incidence of Amyotrophic Lateral Sclerosis: A Meta-Analysis","volume":"46","author":"Marin","year":"2017","journal-title":"Int. J. Epidemiol."},{"key":"ref_171","doi-asserted-by":"crossref","first-page":"480","DOI":"10.1016\/S1474-4422(21)00465-8","article-title":"Recent Advances in the Diagnosis and Prognosis of Amyotrophic Lateral Sclerosis","volume":"21","author":"Goutman","year":"2022","journal-title":"Lancet Neurol."},{"key":"ref_172","doi-asserted-by":"crossref","first-page":"E802","DOI":"10.1212\/WNL.0000000000008869","article-title":"ALS Phenotype Is Influenced by Age, Sex, and Genetics: A Population-Based Study","volume":"94","author":"Chio","year":"2020","journal-title":"Neurology"},{"key":"ref_173","doi-asserted-by":"crossref","first-page":"611","DOI":"10.1136\/jnnp-2015-310734","article-title":"The Cognitive Profile of ALS: A Systematic Review and Meta-Analysis Update","volume":"87","author":"Beeldman","year":"2016","journal-title":"J. Neurol. Neurosurg. Psychiatry"},{"key":"ref_174","doi-asserted-by":"crossref","first-page":"1149","DOI":"10.1001\/archneurol.2012.650","article-title":"Frontotemporal Dementia in a Brazilian Kindred with the C9orf72 Mutation","volume":"69","author":"Takada","year":"2012","journal-title":"Arch. Neurol."},{"key":"ref_175","doi-asserted-by":"crossref","first-page":"470","DOI":"10.1002\/ana.21612","article-title":"TARDBP Mutations in Motoneuron Disease with Frontotemporal Lobar Degeneration","volume":"65","author":"Benajiba","year":"2009","journal-title":"Ann. Neurol."},{"key":"ref_176","doi-asserted-by":"crossref","first-page":"633","DOI":"10.1007\/s00401-009-0571-7","article-title":"TARDBP 3\u2032-UTR Variant in Autopsy-Confirmed Frontotemporal Lobar Degeneration with TDP-43 Proteinopathy","volume":"118","author":"Gitcho","year":"2009","journal-title":"Acta Neuropathol."},{"key":"ref_177","doi-asserted-by":"crossref","first-page":"352","DOI":"10.1016\/j.jns.2016.07.048","article-title":"One Family, One Gene and Three Phenotypes: A Novel VCP (Valosin-Containing Protein) Mutation Associated with Myopathy with Rimmed Vacuoles, Amyotrophic Lateral Sclerosis and Frontotemporal Dementia","volume":"368","author":"Abrahao","year":"2016","journal-title":"J. Neurol. Sci."},{"key":"ref_178","doi-asserted-by":"crossref","first-page":"94","DOI":"10.1016\/S1474-4422(17)30401-5","article-title":"Novel Genes Associated with Amyotrophic Lateral Sclerosis: Diagnostic and Clinical Implications","volume":"17","author":"Chia","year":"2018","journal-title":"Lancet Neurol."},{"key":"ref_179","doi-asserted-by":"crossref","first-page":"24125","DOI":"10.1101\/cshperspect.a024125","article-title":"Genetics of Amyotrophic Lateral Sclerosis","volume":"8","author":"Ghasemi","year":"2018","journal-title":"Cold Spring Harb. Perspect. Med."},{"key":"ref_180","doi-asserted-by":"crossref","first-page":"465","DOI":"10.1016\/S1474-4422(21)00414-2","article-title":"Emerging Insights into the Complex Genetics and Pathophysiology of ALS","volume":"21","author":"Goutman","year":"2022","journal-title":"Lancet Neurol."},{"key":"ref_181","doi-asserted-by":"crossref","first-page":"1975","DOI":"10.1016\/j.clinph.2020.04.005","article-title":"A Proposal for New Diagnostic Criteria for ALS","volume":"131","author":"Shefner","year":"2020","journal-title":"Clin. Neurophysiol."},{"key":"ref_182","doi-asserted-by":"crossref","unstructured":"Nagy, Z.F., P\u00e1l, M., Engelhardt, J.I., Moln\u00e1r, M.J., Kliv\u00e9nyi, P., and Sz\u00e9ll, M. (2024). Beyond C9orf72: Repeat Expansions and Copy Number Variations as Risk Factors of Amyotrophic Lateral Sclerosis across Various Populations. BMC Med. Genom., 17.","DOI":"10.1186\/s12920-024-01807-9"},{"key":"ref_183","doi-asserted-by":"crossref","first-page":"594","DOI":"10.1111\/ene.12345","article-title":"Amyotrophic Lateral Sclerosis in Pregnancy Is Associated with a Vascular Endothelial Growth Factor Promoter Genotype","volume":"21","author":"Lunetta","year":"2014","journal-title":"Eur. J. Neurol."},{"key":"ref_184","doi-asserted-by":"crossref","first-page":"4219","DOI":"10.1007\/s10072-023-06994-4","article-title":"Clinical Characteristics, Course, and Outcomes of Amyotrophic Lateral Sclerosis Overlapping with Pregnancy: A Systematic Review of 38 Published Cases","volume":"44","author":"Hamad","year":"2023","journal-title":"Neurol. Sci."},{"key":"ref_185","doi-asserted-by":"crossref","unstructured":"Yang, B., Huang, S., Zheng, Y., Hou, X., Lin, J., Peng, Y., Du, B., and Yao, X. (2022). Fertility Does Not Alter Disease Progression in ALS Patients of Childbearing Age: A Three Centers Retrospective Analysis in Southern China. Front. Neurol., 13.","DOI":"10.3389\/fneur.2022.895321"},{"key":"ref_186","doi-asserted-by":"crossref","first-page":"61","DOI":"10.1080\/14660820500467009","article-title":"A4V Superoxide Dismutase Mutation in Apparently Sporadic ALS Resembling Neuralgic Amyotrophy","volume":"7","author":"Weiss","year":"2006","journal-title":"Amyotroph. Lateral Scler."},{"key":"ref_187","doi-asserted-by":"crossref","first-page":"323","DOI":"10.1080\/13554794.2022.2100265","article-title":"FUS as a Cause of Familial Amyotrophic Lateral Sclerosis, a Case Report in a Pregnant Patient","volume":"28","year":"2022","journal-title":"Neurocase"},{"key":"ref_188","doi-asserted-by":"crossref","first-page":"1279","DOI":"10.1111\/ene.15224","article-title":"Respiratory Onset of Amyotrophic Lateral Sclerosis in a Pregnant Woman with a Novel SOD1 Mutation","volume":"29","author":"Masrori","year":"2022","journal-title":"Eur. J. Neurol."},{"key":"ref_189","doi-asserted-by":"crossref","first-page":"59","DOI":"10.1038\/362059a0","article-title":"Mutations in Cu\/Zn Superoxide Dismutase Gene Are Associated with Familial Amyotrophic Lateral Sclerosis","volume":"362","author":"Rosen","year":"1993","journal-title":"Nature"},{"key":"ref_190","first-page":"3013","article-title":"A Pregnant Woman with Amyotrophic Lateral Sclerosis from Iran: A Case Report","volume":"86","author":"Amjadi","year":"2024","journal-title":"Ann. Med. Surg."},{"key":"ref_191","doi-asserted-by":"crossref","first-page":"201","DOI":"10.1016\/B978-0-444-64240-0.00012-X","article-title":"Neuromuscular Disorders in Pregnancy","volume":"172","author":"Weimer","year":"2020","journal-title":"Handb. Clin. Neurol."},{"key":"ref_192","doi-asserted-by":"crossref","first-page":"795","DOI":"10.1002\/pmrj.12122","article-title":"Pregnancy Outcomes in Women with Spinal Cord Injuries: A Population-Based Study","volume":"11","author":"Crane","year":"2019","journal-title":"PMR"},{"key":"ref_193","doi-asserted-by":"crossref","first-page":"147","DOI":"10.1089\/jwh.2020.8864","article-title":"The Intersection of Disability and Pregnancy: Risks for Maternal Morbidity and Mortality","volume":"30","author":"Signore","year":"2021","journal-title":"J. Womens Health"}],"container-title":["Genes"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.mdpi.com\/2073-4425\/15\/11\/1409\/pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,10]],"date-time":"2025-10-10T16:24:43Z","timestamp":1760113483000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.mdpi.com\/2073-4425\/15\/11\/1409"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2024,10,30]]},"references-count":193,"journal-issue":{"issue":"11","published-online":{"date-parts":[[2024,11]]}},"alternative-id":["genes15111409"],"URL":"https:\/\/doi.org\/10.3390\/genes15111409","relation":{},"ISSN":["2073-4425"],"issn-type":[{"value":"2073-4425","type":"electronic"}],"subject":[],"published":{"date-parts":[[2024,10,30]]}}}