{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,11]],"date-time":"2026-06-11T06:57:02Z","timestamp":1781161022756,"version":"3.54.1"},"reference-count":182,"publisher":"MDPI AG","issue":"6","license":[{"start":{"date-parts":[[2026,6,9]],"date-time":"2026-06-09T00:00:00Z","timestamp":1780963200000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Genes"],"abstract":"<jats:p>Arthrogryposis multiplex congenita (AMC) is a diverse group of conditions characterized by multiple joint contractures. Although individually rare, these disorders are estimated to affect 1 in 3000\u20135000 live births. Their common pathophysiological mechanism is fetal akinesia, a sustained reduction of fetal movement that may arise from intrinsic disturbances\u2014such as central nervous system malformations, motor neuronopathies, neuropathies, neuromuscular junction defects, congenital myopathies, muscular dystrophies, or metabolic diseases\u2014or from extrinsic factors including uterine constraint, maternal illness, infections, or toxic exposures. Reduced fetal motion leads to relatively uniform clinical manifestations, known as the fetal akinesia deformation sequence (FADS), which is characterized by craniofacial anomalies, pulmonary hypoplasia, growth restriction, and contractures. Currently, AMC is classified by clinical features, such as distal arthrogryposis or lethal congenital contracture syndromes. However, advances in molecular genetics have shown wide variability among conditions classified into the same category. Prognosis is widely variable, ranging from lethal perinatal forms to non-progressive mild conditions. This review discusses AMC etiologies from a topographic standpoint, considering the different levels of the motor system involved, by combining current clinical, genetic, and pathophysiological information.<\/jats:p>","DOI":"10.3390\/genes17060675","type":"journal-article","created":{"date-parts":[[2026,6,11]],"date-time":"2026-06-11T05:50:58Z","timestamp":1781157058000},"page":"675","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Arthrogryposis Multiplex Congenita: Comprehensive Review from a Neuromuscular Standpoint"],"prefix":"10.3390","volume":"17","author":[{"given":"Daniel Delgado","family":"Seneor","sequence":"first","affiliation":[{"name":"Division of Neuromuscular Diseases, Department of Neurology and Neurosurgery, Federal University of S\u00e3o Paulo, S\u00e3o Paulo 04039-060, SP, Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0009-0009-8578-2788","authenticated-orcid":false,"given":"Jo\u00e3o Paulo","family":"Barile","sequence":"additional","affiliation":[{"name":"Division of Neuromuscular Diseases, Department of Neurology and Neurosurgery, Federal University of S\u00e3o Paulo, S\u00e3o Paulo 04039-060, SP, Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Patr\u00edcia Marques","family":"Mendes","sequence":"additional","affiliation":[{"name":"Division of Neuromuscular Diseases, Department of Neurology and Neurosurgery, Federal University of S\u00e3o Paulo, S\u00e3o Paulo 04039-060, SP, Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8526-6937","authenticated-orcid":false,"given":"Marco","family":"Orsini","sequence":"additional","affiliation":[{"name":"Faculty of Medicine, Igua\u00e7u University, Nova Igua\u00e7u 26260-045, RJ, Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Eduardo Mendon\u00e7a Werneck da","family":"Silva","sequence":"additional","affiliation":[{"name":"Division of Neuromuscular Diseases, Department of Neurology and Neurosurgery, Federal University of S\u00e3o Paulo, S\u00e3o Paulo 04039-060, SP, Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Igor Braga","family":"Farias","sequence":"additional","affiliation":[{"name":"Division of Neuromuscular Diseases, Department of Neurology and Neurosurgery, Federal University of S\u00e3o Paulo, S\u00e3o Paulo 04039-060, SP, Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Paulo de Lima","family":"Serrano","sequence":"additional","affiliation":[{"name":"Division of Neuromuscular Diseases, Department of Neurology and Neurosurgery, Federal University of S\u00e3o Paulo, S\u00e3o Paulo 04039-060, SP, Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0150-525X","authenticated-orcid":false,"given":"Wladimir Bocca Vieira de Rezende","family":"Pinto","sequence":"additional","affiliation":[{"name":"Division of Neuromuscular Diseases, Department of Neurology and Neurosurgery, Federal University of S\u00e3o Paulo, S\u00e3o Paulo 04039-060, SP, Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6986-4937","authenticated-orcid":false,"given":"Acary Souza Bulle","family":"Oliveira","sequence":"additional","affiliation":[{"name":"Division of Neuromuscular Diseases, Department of Neurology and Neurosurgery, Federal University of S\u00e3o Paulo, S\u00e3o Paulo 04039-060, SP, Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7416-7108","authenticated-orcid":false,"given":"Paulo Victor Sgobbi de","family":"Souza","sequence":"additional","affiliation":[{"name":"Division of Neuromuscular Diseases, Department of Neurology and Neurosurgery, Federal University of S\u00e3o Paulo, S\u00e3o Paulo 04039-060, SP, Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2026,6,9]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"288","DOI":"10.1002\/ajmg.c.31721","article-title":"International multidisciplinary collaboration toward an annotated definition of arthrogryposis multiplex congenita","volume":"181","author":"Cachecho","year":"2019","journal-title":"Am. J. Med. Genet. Part C Semin. Med. Genet."},{"key":"ref_2","doi-asserted-by":"crossref","first-page":"61","DOI":"10.1067\/mpd.2002.121148","article-title":"Multiple congenital contractures: Birth prevalence, etiology, and outcome","volume":"140","author":"Darin","year":"2002","journal-title":"J. Pediatr."},{"key":"ref_3","doi-asserted-by":"crossref","first-page":"1057","DOI":"10.1002\/bdra.20738","article-title":"Prevalence of multiple congenital contractures including arthrogryposis multiplex congenita in Alberta, Canada, and a strategy for classification and coding","volume":"88","author":"Lowry","year":"2010","journal-title":"Birth Defects Res. Part A Clin. Mol. Teratol."},{"key":"ref_4","doi-asserted-by":"crossref","first-page":"677","DOI":"10.1002\/bdra.20611","article-title":"Pena-Shokeir phenotype (fetal akinesia deformation sequence) revisited","volume":"85","author":"Hall","year":"2009","journal-title":"Birth Defects Res. Part A Clin. Mol. Teratol."},{"key":"ref_5","doi-asserted-by":"crossref","first-page":"720","DOI":"10.1002\/pd.5505","article-title":"Fetal arthrogryposis multiplex congenita\/fetal akinesia deformation sequence (FADS)-Aetiology, diagnosis, and management","volume":"39","author":"Niles","year":"2019","journal-title":"Prenat. Diagn."},{"key":"ref_6","doi-asserted-by":"crossref","first-page":"373","DOI":"10.1016\/S0022-3476(74)80119-8","article-title":"Syndrome of camptodactyly, multiple ankyloses, facial anomalies, and pulmonary hypoplasia: A lethal condition","volume":"85","author":"Pena","year":"1974","journal-title":"J. Pediatr."},{"key":"ref_7","doi-asserted-by":"crossref","first-page":"857","DOI":"10.1542\/peds.72.6.857","article-title":"Fetal akinesia deformation sequence: An animal model","volume":"72","author":"Moessinger","year":"1983","journal-title":"Pediatrics"},{"key":"ref_8","doi-asserted-by":"crossref","first-page":"2676","DOI":"10.1002\/ajmg.a.62151","article-title":"Deformations associated with arthrogryposis","volume":"185","author":"Hall","year":"2021","journal-title":"Am. J. Med. Genet. Part A"},{"key":"ref_9","doi-asserted-by":"crossref","first-page":"464","DOI":"10.1016\/j.ejmg.2014.03.008","article-title":"Arthrogryposis (multiple congenital contractures): Diagnostic approach to etiology, classification, genetics, and general principles","volume":"57","author":"Hall","year":"2014","journal-title":"Eur. J. Med. Genet."},{"key":"ref_10","doi-asserted-by":"crossref","first-page":"132","DOI":"10.1016\/j.ajhg.2019.05.015","article-title":"The Genomics of Arthrogryposis, a Complex Trait: Candidate Genes and Further Evidence for Oligogenic Inheritance","volume":"105","author":"Pehlivan","year":"2019","journal-title":"Am. J. Hum. Genet."},{"key":"ref_11","doi-asserted-by":"crossref","first-page":"148","DOI":"10.1186\/s13023-015-0364-0","article-title":"Next Generation Sequencing in a Large Cohort of Patients Presenting with Neuromuscular Disease before or at Birth","volume":"10","author":"Todd","year":"2015","journal-title":"Orphanet J. Rare Dis."},{"key":"ref_12","doi-asserted-by":"crossref","first-page":"559","DOI":"10.1136\/jmedgenet-2020-107595","article-title":"Phenotypic Spectrum and Genomics of Undiagnosed Arthrogryposis Multiplex Congenita","volume":"59","author":"Laquerriere","year":"2022","journal-title":"J. Med. Genet."},{"key":"ref_13","doi-asserted-by":"crossref","first-page":"40","DOI":"10.2106\/JBJS.I.00281","article-title":"Arthrogryposis: A review and update","volume":"91","author":"Bamshad","year":"2009","journal-title":"J. Bone Jt. Surg. Am."},{"key":"ref_14","doi-asserted-by":"crossref","first-page":"345","DOI":"10.1002\/ajmg.c.31732","article-title":"Central nervous system involvement in arthrogryposis multiplex congenita: Overview of causes, diagnosis, and care","volume":"181","author":"Dieterich","year":"2019","journal-title":"Am. J. Med. Genet. Part C Semin. Med. Genet."},{"key":"ref_15","doi-asserted-by":"crossref","first-page":"399","DOI":"10.1111\/j.1399-0004.1986.tb01897.x","article-title":"The acrocallosal syndrome in sisters","volume":"30","author":"Schinzel","year":"1986","journal-title":"Clin. Genet."},{"key":"ref_16","doi-asserted-by":"crossref","first-page":"601","DOI":"10.1038\/ng.826","article-title":"KIF7 mutations cause fetal hydrolethalus and acrocallosal syndromes","volume":"43","author":"Putoux","year":"2011","journal-title":"Nat. Genet."},{"key":"ref_17","first-page":"13","article-title":"Congenital Malformations of the Posterior Fossa: A Review of Clinical and Radiological Features Through an Illustrated Guide","volume":"60","year":"2024","journal-title":"Rev. Bras. Neurol."},{"key":"ref_18","doi-asserted-by":"crossref","first-page":"92","DOI":"10.1186\/s13023-018-0826-2","article-title":"What\u2019s new in pontocerebellar hypoplasia? An update on genes and subtypes","volume":"13","author":"Baas","year":"2018","journal-title":"Orphanet J. Rare Dis."},{"key":"ref_19","doi-asserted-by":"crossref","first-page":"1113","DOI":"10.1038\/ng.204","article-title":"tRNA splicing endonuclease mutations cause pontocerebellar hypoplasia","volume":"40","author":"Budde","year":"2008","journal-title":"Nat. Genet."},{"key":"ref_20","doi-asserted-by":"crossref","first-page":"857","DOI":"10.1086\/521227","article-title":"Deleterious mutation in the mitochondrial arginyl-transfer RNA synthetase gene is associated with pontocerebellar hypoplasia","volume":"81","author":"Edvardson","year":"2007","journal-title":"Am. J. Hum. Genet."},{"key":"ref_21","doi-asserted-by":"crossref","first-page":"695","DOI":"10.1038\/s41431-018-0098-2","article-title":"Clinical and genetic spectrum of AMPD2-related pontocerebellar hypoplasia type 9","volume":"26","author":"Jamra","year":"2018","journal-title":"Eur. J. Hum. Genet."},{"key":"ref_22","doi-asserted-by":"crossref","first-page":"1752","DOI":"10.1038\/s41431-018-0233-0","article-title":"Biallelic loss of function variants in COASY cause prenatal onset pontocerebellar hypoplasia, microcephaly, and arthrogryposis","volume":"26","author":"Ferdinandusse","year":"2018","journal-title":"Eur. J. Hum. Genet."},{"key":"ref_23","doi-asserted-by":"crossref","first-page":"194","DOI":"10.1007\/s00381-025-06842-0","article-title":"Dandy-Walker syndrome: An updated literature review","volume":"41","author":"Vergara","year":"2025","journal-title":"Childs Nerv. Syst."},{"key":"ref_24","doi-asserted-by":"crossref","first-page":"521","DOI":"10.1111\/j.1399-0004.1985.tb00420.x","article-title":"The Aase-Smith syndrome","volume":"28","author":"Patton","year":"1985","journal-title":"Clin. Genet."},{"key":"ref_25","doi-asserted-by":"crossref","first-page":"41","DOI":"10.1097\/00019605-200101000-00009","article-title":"A family with distal arthrogryposis and cleft palate: Possible overlap between Gordon syndrome and Aase-Smith syndrome","volume":"10","author":"Becker","year":"2001","journal-title":"Clin. Dysmorphol."},{"key":"ref_26","doi-asserted-by":"crossref","first-page":"363","DOI":"10.1038\/ejhg.2013.135","article-title":"AP1S2 is mutated in X-linked Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizures (Pettigrew syndrome)","volume":"22","author":"Cacciagli","year":"2014","journal-title":"Eur. J. Hum. Genet."},{"key":"ref_27","doi-asserted-by":"crossref","first-page":"200","DOI":"10.1002\/ajmg.1320380206","article-title":"New X-linked mental retardation disorder with Dandy-Walker malformation, basal ganglia disease, and seizures","volume":"38","author":"Pettigrew","year":"1991","journal-title":"Am. J. Med. Genet."},{"key":"ref_28","doi-asserted-by":"crossref","first-page":"2329048X16666362","DOI":"10.1177\/2329048X16666362","article-title":"De Novo 3q22.3q24 Microdeletion in a Patient With Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome, Dandy-Walker Malformation, and Wisconsin Syndrome","volume":"3","author":"Ramineni","year":"2016","journal-title":"Child Neurol. Open"},{"key":"ref_29","doi-asserted-by":"crossref","first-page":"931","DOI":"10.1002\/ajmg.a.36934","article-title":"Review of X-linked syndromes with arthrogryposis or early contractures-aid to diagnosis and pathway identification","volume":"167","author":"Hunter","year":"2015","journal-title":"Am. J. Med. Genet. Part A"},{"key":"ref_30","doi-asserted-by":"crossref","first-page":"555","DOI":"10.1093\/hmg\/6.4.555","article-title":"Linkage and physical mapping of X-linked lissencephaly\/SBH (XLIS): A gene causing neuronal migration defects in human brain","volume":"6","author":"Ross","year":"1997","journal-title":"Hum. Mol. Genet."},{"key":"ref_31","doi-asserted-by":"crossref","first-page":"841","DOI":"10.1212\/WNL.13.10.841","article-title":"Lissencephaly in 2 siblings","volume":"13","author":"Miller","year":"1963","journal-title":"Neurology"},{"key":"ref_32","doi-asserted-by":"crossref","first-page":"918","DOI":"10.1086\/374320","article-title":"Refinement of a 400-kb critical region allows genotypic differentiation between isolated lissencephaly, Miller-Dieker syndrome, and other phenotypes secondary to deletions of 17p13.3","volume":"72","author":"Cardoso","year":"2003","journal-title":"Am. J. Hum. Genet."},{"key":"ref_33","doi-asserted-by":"crossref","first-page":"249","DOI":"10.1016\/j.ejmg.2015.12.007","article-title":"De novo TUBB2B mutation causes fetal akinesia deformation sequence with microlissencephaly: An unusual presentation of tubulinopathy","volume":"59","author":"Laquerriere","year":"2016","journal-title":"Eur. J. Med. Genet."},{"key":"ref_34","doi-asserted-by":"crossref","first-page":"2331","DOI":"10.1002\/ajmg.a.62866","article-title":"Broadening the phenotypic spectrum of TUBA1A tubulinopathy to syndromic arthrogryposis multiplex congenita","volume":"188","author":"Weber","year":"2022","journal-title":"Am. J. Med. Genet. Part A"},{"key":"ref_35","doi-asserted-by":"crossref","first-page":"276","DOI":"10.1002\/pd.5589","article-title":"Prenatal cerebral imaging features of a new syndromic entity related to KIAA1109 pathogenic variants mimicking tubulinopathy","volume":"40","author":"Cabet","year":"2020","journal-title":"Prenat. Diagn."},{"key":"ref_36","first-page":"225","article-title":"Developmental aspects of lissencephaly and the lissencephaly syndromes","volume":"23","author":"Dobyns","year":"1987","journal-title":"Birth Defects Orig. Artic. Ser."},{"key":"ref_37","doi-asserted-by":"crossref","first-page":"313","DOI":"10.1016\/S0887-8994(98)00063-0","article-title":"Lissencephaly associated with congenital hypomyelinating and axonal neuropathy","volume":"19","author":"Nissenkorn","year":"1998","journal-title":"Pediatr. Neurol."},{"key":"ref_38","doi-asserted-by":"crossref","first-page":"24","DOI":"10.1055\/s-2008-1052396","article-title":"Arthrogryposis multiplex congenita associated with lissencephaly: A case report","volume":"19","author":"Massa","year":"1988","journal-title":"Neuropediatrics"},{"key":"ref_39","doi-asserted-by":"crossref","first-page":"14","DOI":"10.1002\/1096-8628(20010215)99:1<14::AID-AJMG1121>3.0.CO;2-S","article-title":"Lissencephaly type III, stippled epiphyses and loose, thick skin: A new recessively inherited syndrome","volume":"99","author":"Hermier","year":"2001","journal-title":"Am. J. Med. Genet."},{"key":"ref_40","doi-asserted-by":"crossref","first-page":"525","DOI":"10.1007\/s12311-016-0803-z","article-title":"Hereditary Spastic Paraplegia: Clinical and Genetic Hallmarks","volume":"16","author":"Bortholin","year":"2017","journal-title":"Cerebellum"},{"key":"ref_41","doi-asserted-by":"crossref","first-page":"95","DOI":"10.1111\/j.1399-0004.1971.tb00262.x","article-title":"The adducted thumbs syndrome. An autosomal recessive disease with arthrogryposis, dysmyelination, craniostenosis, and cleft palate","volume":"2","author":"Christian","year":"1971","journal-title":"Clin. Genet."},{"key":"ref_42","doi-asserted-by":"crossref","first-page":"521","DOI":"10.5152\/TurkArchPediatr.2022.22070","article-title":"Severe Phenotype in Patients with X-linked Hydrocephalus Caused by a Missense Mutation in L1CAM","volume":"57","author":"Tuysuz","year":"2022","journal-title":"Turk. Arch. Pediatr."},{"key":"ref_43","doi-asserted-by":"crossref","first-page":"1199","DOI":"10.1086\/379524","article-title":"eIF2B-related disorders: Antenatal onset and involvement of multiple organs","volume":"73","author":"Herms","year":"2003","journal-title":"Am. J. Hum. Genet."},{"key":"ref_44","doi-asserted-by":"crossref","first-page":"e250360","DOI":"10.1136\/bcr-2022-250360","article-title":"Neurological Waardenburg-Shah syndrome: A diagnostic challenge in a child with skin hypopigmentation and neurological manifestation","volume":"15","author":"Ng","year":"2022","journal-title":"BMJ Case Rep."},{"key":"ref_45","doi-asserted-by":"crossref","first-page":"1968","DOI":"10.1002\/ajmg.a.40362","article-title":"Biallelic deletions of the Waardenburg II syndrome gene, SOX10, cause a recognizable arthrogryposis syndrome","volume":"176","author":"Stevenson","year":"2018","journal-title":"Am. J. Med. Genet. Part A"},{"key":"ref_46","doi-asserted-by":"crossref","first-page":"724","DOI":"10.1002\/humu.20958","article-title":"GJA1 mutations, variants, and connexin 43 dysfunction as it relates to the oculodentodigital dysplasia phenotype","volume":"30","author":"Paznekas","year":"2009","journal-title":"Hum. Mutat."},{"key":"ref_47","doi-asserted-by":"crossref","first-page":"762","DOI":"10.1172\/JCI84457","article-title":"Molecular etiology of arthrogryposis in multiple families of mostly Turkish origin","volume":"126","author":"Bayram","year":"2016","journal-title":"J. Clin. Investig."},{"key":"ref_48","doi-asserted-by":"crossref","first-page":"2329048X211019173","DOI":"10.1177\/2329048X211019173","article-title":"Perinatal Manifestations of DARS2-Associated Leukoencephalopathy With Brainstem and Spinal Cord Involvement and Lactate Elevation (LBSL)","volume":"8","author":"Ngo","year":"2021","journal-title":"Child Neurol. Open"},{"key":"ref_49","doi-asserted-by":"crossref","first-page":"49","DOI":"10.1016\/S1090-3798(99)80012-9","article-title":"Very severe spinal muscular atrophy (SMA type 0): An expanding clinical phenotype","volume":"3","author":"Dubowitz","year":"1999","journal-title":"Eur. J. Paediatr. Neurol."},{"key":"ref_50","doi-asserted-by":"crossref","first-page":"487","DOI":"10.3233\/JND-160177","article-title":"Type 0 Spinal Muscular Atrophy: Further Delineation of Prenatal and Postnatal Features in 16 Patients","volume":"3","author":"Grotto","year":"2016","journal-title":"J. Neuromuscul. Dis."},{"key":"ref_51","doi-asserted-by":"crossref","first-page":"912","DOI":"10.1590\/0004-282x-anp-2020-0429","article-title":"Adult-onset non-5q proximal spinal muscular atrophy: A comprehensive review","volume":"79","author":"Pinto","year":"2021","journal-title":"Arq. Neuropsiquiatr."},{"key":"ref_52","doi-asserted-by":"crossref","first-page":"183","DOI":"10.1016\/j.ejpn.2013.11.006","article-title":"Severe phenotypes of SMARD1 associated with novel mutations of the IGHMBP2 gene and nuclear degeneration of muscle and Schwann cells","volume":"18","author":"Mierzewska","year":"2014","journal-title":"Eur. J. Paediatr. Neurol."},{"key":"ref_53","doi-asserted-by":"crossref","first-page":"2879","DOI":"10.1093\/brain\/awu169","article-title":"Clinical and genetic diversity of SMN1-negative proximal spinal muscular atrophies","volume":"137","author":"Peeters","year":"2014","journal-title":"Brain"},{"key":"ref_54","doi-asserted-by":"crossref","first-page":"e148","DOI":"10.1542\/peds.2011-0544","article-title":"The natural course of infantile spinal muscular atrophy with respiratory distress type 1 (SMARD1)","volume":"129","author":"Eckart","year":"2012","journal-title":"Pediatrics"},{"key":"ref_55","doi-asserted-by":"crossref","first-page":"1062","DOI":"10.1016\/j.nmd.2021.07.399","article-title":"Neurogenic arthrogryposis and the power of phenotyping","volume":"31","author":"Rossor","year":"2021","journal-title":"Neuromuscul. Disord."},{"key":"ref_56","doi-asserted-by":"crossref","first-page":"806","DOI":"10.1093\/brain\/awac452","article-title":"Early onset hereditary neuronopathies: An update on non-5q motor neuron diseases","volume":"146","author":"Pini","year":"2023","journal-title":"Brain"},{"key":"ref_57","doi-asserted-by":"crossref","first-page":"2049","DOI":"10.1002\/ajmg.a.61729","article-title":"DYNC1H1-related disorders: A description of four new unrelated patients and a comprehensive review of previously reported variants","volume":"182","author":"Amabile","year":"2020","journal-title":"Am. J. Med. Genet. Part A"},{"key":"ref_58","doi-asserted-by":"crossref","first-page":"32","DOI":"10.1038\/s41439-024-00290-z","article-title":"Missense BICD2 variants in fetuses with congenital arthrogryposis and pterygia","volume":"11","author":"Masuda","year":"2024","journal-title":"Hum. Genome Var."},{"key":"ref_59","doi-asserted-by":"crossref","first-page":"1040","DOI":"10.1038\/ejhg.2017.98","article-title":"Phenotypic extremes of BICD2-opathies: From lethal, congenital muscular atrophy with arthrogryposis to asymptomatic with subclinical features","volume":"25","author":"Storbeck","year":"2017","journal-title":"Eur. J. Hum. Genet."},{"key":"ref_60","doi-asserted-by":"crossref","first-page":"173","DOI":"10.1111\/cge.13086","article-title":"A homozygous I684T in GLE1 as a novel cause of arthrogryposis and motor neuron loss","volume":"93","author":"Paakkola","year":"2018","journal-title":"Clin. Genet."},{"key":"ref_61","doi-asserted-by":"crossref","first-page":"426","DOI":"10.1111\/cge.12876","article-title":"Expansion of the GLE1-associated arthrogryposis multiplex congenita clinical spectrum","volume":"91","author":"Smith","year":"2017","journal-title":"Clin. Genet."},{"key":"ref_62","doi-asserted-by":"crossref","first-page":"589","DOI":"10.1086\/520770","article-title":"Lethal congenital contractural syndrome type 2 (LCCS2) is caused by a mutation in ERBB3 (Her3), a modulator of the phosphatidylinositol-3-kinase\/Akt pathway","volume":"81","author":"Narkis","year":"2007","journal-title":"Am. J. Hum. Genet."},{"key":"ref_63","doi-asserted-by":"crossref","first-page":"391","DOI":"10.1016\/j.nmd.2013.02.001","article-title":"Clinical and neuropathological features of X-linked spinal muscular atrophy (SMAX2) associated with a novel mutation in the UBA1 gene","volume":"23","author":"Dlamini","year":"2013","journal-title":"Neuromuscul. Disord."},{"key":"ref_64","doi-asserted-by":"crossref","first-page":"473","DOI":"10.1016\/j.ajhg.2016.01.006","article-title":"Mutations in Subunits of the Activating Signal Cointegrator 1 Complex Are Associated with Prenatal Spinal Muscular Atrophy and Congenital Bone Fractures","volume":"98","author":"Knierim","year":"2016","journal-title":"Am. J. Hum. Genet."},{"key":"ref_65","first-page":"e43413","article-title":"Homozygous TRPV4 Mutation Broadens the Phenotypic Spectrum of Congenital Spinal Muscular Atrophy and Arthrogryposis: A Case Report","volume":"15","author":"Lugo","year":"2023","journal-title":"Cureus"},{"key":"ref_66","doi-asserted-by":"crossref","first-page":"e312","DOI":"10.1212\/NXG.0000000000000312","article-title":"Homozygous TRPV4 mutation causes congenital distal spinal muscular atrophy and arthrogryposis","volume":"5","author":"Velilla","year":"2019","journal-title":"Neurol. Genet."},{"key":"ref_67","doi-asserted-by":"crossref","first-page":"719","DOI":"10.1002\/ana.23527","article-title":"Homozygous deletion of an EGR2 enhancer in congenital amyelinating neuropathy","volume":"71","author":"Funalot","year":"2012","journal-title":"Ann. Neurol."},{"key":"ref_68","doi-asserted-by":"crossref","first-page":"382","DOI":"10.1038\/ng0498-382","article-title":"Mutations in the early growth response 2 (EGR2) gene are associated with hereditary myelinopathies","volume":"18","author":"Warner","year":"1998","journal-title":"Nat. Genet."},{"key":"ref_69","doi-asserted-by":"crossref","first-page":"2122","DOI":"10.1212\/01.WNL.0000127606.93772.3A","article-title":"A novel MPZ gene mutation in congenital neuropathy with hypomyelination","volume":"62","author":"Kochanski","year":"2004","journal-title":"Neurology"},{"key":"ref_70","doi-asserted-by":"crossref","first-page":"676","DOI":"10.1002\/1531-8249(199905)45:5<676::AID-ANA21>3.0.CO;2-K","article-title":"Congenital hypomyelination due to myelin protein zero Q215X mutation","volume":"45","author":"Mandich","year":"1999","journal-title":"Ann. Neurol."},{"key":"ref_71","doi-asserted-by":"crossref","first-page":"123","DOI":"10.1136\/jnnp.70.1.123","article-title":"PMP22 related congenital hypomyelination neuropathy","volume":"70","author":"Fabrizi","year":"2001","journal-title":"J. Neurol. Neurosurg. Psychiatry"},{"key":"ref_72","doi-asserted-by":"crossref","first-page":"257","DOI":"10.1016\/S0960-8966(99)00008-5","article-title":"Congenital hypomyelination neuropathy with Ser72Leu substitution in PMP22","volume":"9","author":"Simonati","year":"1999","journal-title":"Neuromuscul. Disord."},{"key":"ref_73","doi-asserted-by":"crossref","first-page":"107","DOI":"10.1007\/s100480000101","article-title":"Denaturing high-performance liquid chromatography of the myotubularin-related 2 gene (MTMR2) in unrelated patients with Charcot-Marie-Tooth disease suggests a low frequency of mutation in inherited neuropathy","volume":"3","author":"Bolino","year":"2001","journal-title":"Neurogenetics"},{"key":"ref_74","doi-asserted-by":"crossref","first-page":"226","DOI":"10.1016\/S0887-8994(98)00138-6","article-title":"Congenital hypomyelinating neuropathy: Two patients with long-term follow-up","volume":"20","author":"Phillips","year":"1999","journal-title":"Pediatr. Neurol."},{"key":"ref_75","doi-asserted-by":"crossref","first-page":"59","DOI":"10.1016\/j.nmd.2007.07.011","article-title":"Congenital hypomyelinating neuropathy, a long term follow-up study in an affected family","volume":"18","author":"Smit","year":"2008","journal-title":"Neuromuscul. Disord."},{"key":"ref_76","doi-asserted-by":"crossref","first-page":"928","DOI":"10.1016\/j.ajhg.2016.07.021","article-title":"Mutations in GLDN, Encoding Gliomedin, a Critical Component of the Nodes of Ranvier, Are Responsible for Lethal Arthrogryposis","volume":"99","author":"Maluenda","year":"2016","journal-title":"Am. J. Hum. Genet."},{"key":"ref_77","doi-asserted-by":"crossref","first-page":"955","DOI":"10.1016\/j.ajhg.2015.04.014","article-title":"Mutations of GPR126 are responsible for severe arthrogryposis multiplex congenita","volume":"96","author":"Ravenscroft","year":"2015","journal-title":"Am. J. Hum. Genet."},{"key":"ref_78","doi-asserted-by":"crossref","first-page":"105449","DOI":"10.1016\/j.nmd.2025.105449","article-title":"ADGRG6-related disorder: A novel mutation resulting in distal arthrogryposis and a patchy neuropathy","volume":"53","author":"Perrain","year":"2025","journal-title":"Neuromuscul. Disord."},{"key":"ref_79","doi-asserted-by":"crossref","first-page":"659","DOI":"10.1016\/j.ajhg.2017.02.006","article-title":"Loss-of-Function Mutations in LGI4, a Secreted Ligand Involved in Schwann Cell Myelination, Are Responsible for Arthrogryposis Multiplex Congenita","volume":"100","author":"Xue","year":"2017","journal-title":"Am. J. Hum. Genet."},{"key":"ref_80","doi-asserted-by":"crossref","first-page":"160","DOI":"10.1111\/cge.13018","article-title":"Mutations in ERGIC1 cause Arthrogryposis multiplex congenita, neuropathic type","volume":"93","author":"Reinstein","year":"2018","journal-title":"Clin. Genet."},{"key":"ref_81","doi-asserted-by":"crossref","first-page":"329","DOI":"10.1111\/cge.14004","article-title":"Bi-allelic loss of ERGIC1 causes relatively mild arthrogryposis","volume":"100","author":"Marconi","year":"2021","journal-title":"Clin. Genet."},{"key":"ref_82","doi-asserted-by":"crossref","first-page":"1756","DOI":"10.1038\/nn.4162","article-title":"Piezo2 is the principal mechanotransduction channel for proprioception","volume":"18","author":"Woo","year":"2015","journal-title":"Nat. Neurosci."},{"key":"ref_83","doi-asserted-by":"crossref","first-page":"945","DOI":"10.1002\/ajmg.a.62052","article-title":"Confirming the involvement of PIEZO2 in the etiology of Marden-Walker syndrome","volume":"185","author":"Seidahmed","year":"2021","journal-title":"Am. J. Med. Genet. Part A"},{"key":"ref_84","doi-asserted-by":"crossref","first-page":"254","DOI":"10.1002\/ajmg.a.37997","article-title":"Familial Gordon syndrome associated with a PIEZO2 mutation","volume":"173","author":"Alisch","year":"2017","journal-title":"Am. J. Med. Genet. Part A"},{"key":"ref_85","doi-asserted-by":"crossref","first-page":"4667","DOI":"10.1073\/pnas.1221400110","article-title":"Gain-of-function mutations in the mechanically activated ion channel PIEZO2 cause a subtype of Distal Arthrogryposis","volume":"110","author":"Coste","year":"2013","journal-title":"Proc. Natl. Acad. Sci. USA"},{"key":"ref_86","doi-asserted-by":"crossref","first-page":"1483","DOI":"10.1093\/hmg\/dds514","article-title":"The neuronal endopeptidase ECEL1 is associated with a distinct form of recessive distal arthrogryposis","volume":"22","author":"Dieterich","year":"2013","journal-title":"Hum. Mol. Genet."},{"key":"ref_87","doi-asserted-by":"crossref","first-page":"2857","DOI":"10.1002\/ajmg.a.36702","article-title":"Distal arthrogryposis type 5D with a novel ECEL1 gene mutation","volume":"164","author":"Patil","year":"2014","journal-title":"Am. J. Med. Genet. Part A"},{"key":"ref_88","doi-asserted-by":"crossref","first-page":"1355","DOI":"10.1056\/NEJMoa1602812","article-title":"The Role of PIEZO2 in Human Mechanosensation","volume":"375","author":"Chesler","year":"2016","journal-title":"N. Engl. J. Med."},{"key":"ref_89","doi-asserted-by":"crossref","first-page":"1206","DOI":"10.1016\/j.ajhg.2016.09.019","article-title":"Biallelic Loss of Proprioception-Related PIEZO2 Causes Muscular Atrophy with Perinatal Respiratory Distress, Arthrogryposis, and Scoliosis","volume":"99","author":"Storbeck","year":"2016","journal-title":"Am. J. Hum. Genet."},{"key":"ref_90","doi-asserted-by":"crossref","first-page":"497","DOI":"10.1038\/jhg.2016.153","article-title":"Recessive PIEZO2 stop mutation causes distal arthrogryposis with distal muscle weakness, scoliosis and proprioception defects","volume":"62","author":"Haliloglu","year":"2017","journal-title":"J. Hum. Genet."},{"key":"ref_91","doi-asserted-by":"crossref","first-page":"470","DOI":"10.1111\/cge.12850","article-title":"Loss of the proprioception and touch sensation channel PIEZO2 in siblings with a progressive form of contractures","volume":"91","author":"Mahmud","year":"2017","journal-title":"Clin. Genet."},{"key":"ref_92","doi-asserted-by":"crossref","first-page":"287","DOI":"10.1159\/000494451","article-title":"Distal Arthrogryposis with Impaired Proprioception and Touch: Description of an Early Phenotype in a Boy with Compound Heterozygosity of PIEZO2 Mutations and Review of the Literature","volume":"9","author":"Behunova","year":"2019","journal-title":"Mol. Syndromol."},{"key":"ref_93","doi-asserted-by":"crossref","first-page":"464","DOI":"10.1016\/j.ajhg.2007.11.006","article-title":"Acetylcholine receptor pathway mutations explain various fetal akinesia deformation sequence disorders","volume":"82","author":"Michalk","year":"2008","journal-title":"Am. J. Hum. Genet."},{"key":"ref_94","doi-asserted-by":"crossref","first-page":"750","DOI":"10.1590\/0004-282X20160106","article-title":"Clinical and genetic basis of congenital myasthenic syndromes","volume":"74","author":"Batistella","year":"2016","journal-title":"Arq. Neuropsiquiatr."},{"key":"ref_95","first-page":"233","article-title":"Pterygium syndrome in three children in a recessive pedigree pattern","volume":"5","author":"Norum","year":"1969","journal-title":"Birth Defects Orig. Art. Ser."},{"key":"ref_96","doi-asserted-by":"crossref","first-page":"390","DOI":"10.1086\/506256","article-title":"Mutations in the embryonal subunit of the acetylcholine receptor (CHRNG) cause lethal and Escobar variants of multiple pterygium syndrome","volume":"79","author":"Morgan","year":"2006","journal-title":"Am. J. Hum. Genet."},{"key":"ref_97","doi-asserted-by":"crossref","first-page":"213","DOI":"10.1038\/jhg.2015.2","article-title":"Rare cases of congenital arthrogryposis multiplex caused by novel recurrent CHRNG mutations","volume":"60","author":"Seo","year":"2015","journal-title":"J. Hum. Genet."},{"key":"ref_98","doi-asserted-by":"crossref","first-page":"303","DOI":"10.1086\/506257","article-title":"Escobar syndrome is a prenatal myasthenia caused by disruption of the acetylcholine receptor fetal gamma subunit","volume":"79","author":"Hoffmann","year":"2006","journal-title":"Am. J. Hum. Genet."},{"key":"ref_99","doi-asserted-by":"crossref","first-page":"12","DOI":"10.1016\/j.tjog.2012.01.004","article-title":"Prenatal diagnosis and genetic analysis of fetal akinesia deformation sequence and multiple pterygium syndrome associated with neuromuscular junction disorders: A review","volume":"51","author":"Chen","year":"2012","journal-title":"Taiwan J. Obstet. Gynecol."},{"key":"ref_100","doi-asserted-by":"crossref","first-page":"195","DOI":"10.1136\/jmedgenet-2014-102730","article-title":"MuSK: A new target for lethal fetal akinesia deformation sequence (FADS)","volume":"52","author":"Wilbe","year":"2015","journal-title":"J. Med. Genet."},{"key":"ref_101","doi-asserted-by":"crossref","first-page":"9","DOI":"10.1007\/s10048-024-00787-3","article-title":"Clinical and genetic diversity in Iranian individuals with RAPSN-related congenital myasthenic syndrome","volume":"26","author":"Ghasemi","year":"2024","journal-title":"Neurogenetics"},{"key":"ref_102","doi-asserted-by":"crossref","first-page":"153","DOI":"10.1016\/j.nmd.2015.10.013","article-title":"Long-term follow-up in patients with congenital myasthenic syndrome due to RAPSN mutations","volume":"26","author":"Vilchez","year":"2016","journal-title":"Neuromuscul. Disord."},{"key":"ref_103","doi-asserted-by":"crossref","unstructured":"Bonnin, E., Cabochette, P., Filosa, A., J\u00fchlen, R., Komatsuzaki, S., Hezwani, M., Dickmanns, A., Martinelli, V., Vermeersch, M., and Supply, L. (2018). Biallelic mutations in nucleoporin NUP88 cause lethal fetal akinesia deformation sequence. PLoS Genet., 14.","DOI":"10.1371\/journal.pgen.1007845"},{"key":"ref_104","doi-asserted-by":"crossref","first-page":"592","DOI":"10.1007\/s13224-023-01827-y","article-title":"DOK7 Gene Novel Homozygous Mutation is Related to Fetal Akinesia Deformation Sequence 3","volume":"75","author":"Komachali","year":"2025","journal-title":"J. Obstet. Gynecol. India"},{"key":"ref_105","doi-asserted-by":"crossref","first-page":"804","DOI":"10.1002\/ajmg.a.61473","article-title":"Biallelic c.1263dupC in DOK7 results in fetal akinesia deformation sequence","volume":"182","author":"Radhakrishnan","year":"2020","journal-title":"Am. J. Med. Genet. Part A"},{"key":"ref_106","doi-asserted-by":"crossref","first-page":"226","DOI":"10.1111\/cge.14431","article-title":"Variants in DOK7 results in fetal akinesia deformation sequence: A case report and review of literature","volume":"105","author":"Tiwari","year":"2024","journal-title":"Clin. Genet."},{"key":"ref_107","doi-asserted-by":"crossref","first-page":"338","DOI":"10.1136\/jmg.2008.065425","article-title":"Germline mutation in DOK7 associated with fetal akinesia deformation sequence","volume":"46","author":"Vogt","year":"2009","journal-title":"J. Med. Genet."},{"key":"ref_108","doi-asserted-by":"crossref","first-page":"761","DOI":"10.1001\/archneur.60.5.761","article-title":"Congenital myasthenic syndrome with episodic apnea in patients homozygous for a CHAT missense mutation","volume":"60","author":"Kraner","year":"2003","journal-title":"Arch. Neurol."},{"key":"ref_109","doi-asserted-by":"crossref","first-page":"194","DOI":"10.1007\/s00415-017-8689-3","article-title":"Congenital myasthenic syndrome with episodic apnoea: Clinical, neurophysiological and genetic features in the long-term follow-up of 19 patients","volume":"265","author":"McMacken","year":"2018","journal-title":"J. Neurol."},{"key":"ref_110","doi-asserted-by":"crossref","first-page":"a006242","DOI":"10.1101\/mcs.a006242","article-title":"Rapid genome sequencing identifies a novel de novo SNAP25 variant for neonatal congenital myasthenic syndrome","volume":"8","author":"Reynolds","year":"2022","journal-title":"Mol. Case Stud."},{"key":"ref_111","doi-asserted-by":"crossref","first-page":"2247","DOI":"10.1212\/WNL.0000000000001079","article-title":"Mutant SNAP25B causes myasthenia, cortical hyperexcitability, ataxia, and intellectual disability","volume":"83","author":"Shen","year":"2014","journal-title":"Neurology"},{"key":"ref_112","doi-asserted-by":"crossref","first-page":"1442","DOI":"10.1212\/WNL.0000000000003179","article-title":"Variants in SLC18A3, vesicular acetylcholine transporter, cause congenital myasthenic syndrome","volume":"87","author":"Verschuuren","year":"2016","journal-title":"Neurology"},{"key":"ref_113","doi-asserted-by":"crossref","unstructured":"Cetin, H., Beeson, D., Vincent, A., and Webster, R. (2020). The Structure, Function, and Physiology of the Fetal and Adult Acetylcholine Receptor in Muscle. Front. Mol. Neurosci., 13.","DOI":"10.3389\/fnmol.2020.581097"},{"key":"ref_114","doi-asserted-by":"crossref","first-page":"555","DOI":"10.1172\/JCI117369","article-title":"Association of neonatal myasthenia gravis with antibodies against the fetal acetylcholine receptor","volume":"94","author":"Lacokova","year":"1994","journal-title":"J. Clin. Investig."},{"key":"ref_115","doi-asserted-by":"crossref","unstructured":"Lindroos, J.L.V., Bj\u00f8rk, M.-H., and Gilhus, N.E. (2024). Transient Neonatal Myasthenia Gravis as a Common Complication of a Rare Disease: A Systematic Review. J. Clin. Med., 13.","DOI":"10.3390\/jcm13041136"},{"key":"ref_116","doi-asserted-by":"crossref","first-page":"433","DOI":"10.1007\/s11832-015-0690-8","article-title":"Maternal myasthenia gravis: A cause for arthrogryposis multiplex congenita","volume":"9","author":"Midelfart","year":"2015","journal-title":"J. Child. Orthop."},{"key":"ref_117","doi-asserted-by":"crossref","first-page":"332","DOI":"10.1002\/1096-9926(200011)62:5<332::AID-TERA7>3.0.CO;2-E","article-title":"Teratogen update: Maternal myasthenia gravis as a cause of congenital arthrogryposis","volume":"62","author":"Polizzi","year":"2000","journal-title":"Teratology"},{"key":"ref_118","doi-asserted-by":"crossref","first-page":"1094","DOI":"10.1136\/jnnp.2006.091504","article-title":"Transient neonatal Lambert-Eaton syndrome","volume":"77","author":"Lecky","year":"2006","journal-title":"J. Neurol. Neurosurg. Psychiatry"},{"key":"ref_119","doi-asserted-by":"crossref","first-page":"417","DOI":"10.5435\/00124635-200211000-00006","article-title":"Arthrogryposis and amyoplasia","volume":"10","author":"Bernstein","year":"2002","journal-title":"J. Am. Acad. Orthop. Surg."},{"key":"ref_120","doi-asserted-by":"crossref","first-page":"700","DOI":"10.1002\/ajmg.a.36395","article-title":"Amyoplasia revisited","volume":"164","author":"Hall","year":"2014","journal-title":"Am. J. Med. Genet. Part A"},{"key":"ref_121","doi-asserted-by":"crossref","first-page":"427","DOI":"10.1007\/s11832-015-0689-1","article-title":"AMC: Amyoplasia and distal arthrogryposis","volume":"9","author":"Kimber","year":"2015","journal-title":"J. Child. Orthop."},{"key":"ref_122","doi-asserted-by":"crossref","first-page":"359","DOI":"10.1002\/ajmg.a.38577","article-title":"Arthrogryposis and pterygia as lethal end manifestations of genetically defined congenital myopathies","volume":"176","author":"Ahmed","year":"2018","journal-title":"Am. J. Med. Genet. Part A"},{"key":"ref_123","doi-asserted-by":"crossref","first-page":"883","DOI":"10.1038\/ejhg.2014.169","article-title":"Recessive ACTA1 variant causes congenital muscular dystrophy with rigid spine","volume":"23","author":"Oates","year":"2015","journal-title":"Eur. J. Hum. Genet."},{"key":"ref_124","doi-asserted-by":"crossref","unstructured":"Buchignani, B., Marinella, G., Pasquariello, R., Sgherri, G., Frosini, S., Santorelli, F.M., Orsini, A., Battini, R., and Astrea, G. (2024). KLHL40-Related Myopathy: A Systematic Review and Insight into a Follow-up Biomarker via a New Case Report. Genes, 15.","DOI":"10.3390\/genes15020208"},{"key":"ref_125","doi-asserted-by":"crossref","first-page":"887","DOI":"10.1016\/j.braindev.2015.02.002","article-title":"Nemaline myopathy with KLHL40 mutation presenting as congenital totally locked-in state","volume":"37","author":"Kawase","year":"2015","journal-title":"Brain Dev."},{"key":"ref_126","doi-asserted-by":"crossref","first-page":"108","DOI":"10.1016\/j.nmd.2018.12.009","article-title":"Long-term follow-up and characteristic pathological findings in severe nemaline myopathy due to LMOD3 mutations","volume":"29","author":"Michael","year":"2019","journal-title":"Neuromuscul. Disord."},{"key":"ref_127","doi-asserted-by":"crossref","first-page":"4693","DOI":"10.1172\/JCI75199","article-title":"Leiomodin-3 dysfunction results in thin filament disorganization and nemaline myopathy","volume":"124","author":"Yuen","year":"2014","journal-title":"J. Clin. Investig."},{"key":"ref_128","doi-asserted-by":"crossref","first-page":"355","DOI":"10.1016\/j.nmd.2007.02.008","article-title":"Hereditary myosin myopathies","volume":"17","author":"Oldfors","year":"2007","journal-title":"Neuromuscul. Disord."},{"key":"ref_129","doi-asserted-by":"crossref","first-page":"437","DOI":"10.1016\/j.nmd.2013.02.011","article-title":"A new de novo missense mutation in MYH2 expands clinical and genetic findings in hereditary myosin myopathies","volume":"23","author":"Fattori","year":"2013","journal-title":"Neuromuscul. Disord."},{"key":"ref_130","doi-asserted-by":"crossref","first-page":"14614","DOI":"10.1073\/pnas.250289597","article-title":"Autosomal dominant myopathy: Missense mutation (Glu-706 \u2192 Lys) in the myosin heavy chain IIa gene","volume":"97","author":"Martinsson","year":"2000","journal-title":"Proc. Natl. Acad. Sci. USA"},{"key":"ref_131","doi-asserted-by":"crossref","first-page":"483","DOI":"10.1111\/cge.14570","article-title":"Bi-allelic variants in MYH3 cause recessively-inherited arthrogryposis","volume":"106","author":"Morali","year":"2024","journal-title":"Clin. Genet."},{"key":"ref_132","doi-asserted-by":"crossref","first-page":"561","DOI":"10.1038\/ng1775","article-title":"Mutations in embryonic myosin heavy chain (MYH3) cause Freeman-Sheldon syndrome and Sheldon-Hall syndrome","volume":"38","author":"Toydemir","year":"2006","journal-title":"Nat. Genet."},{"key":"ref_133","doi-asserted-by":"crossref","first-page":"445","DOI":"10.1016\/j.nmd.2022.03.007","article-title":"Bi-allelic MYH3 loss-of-function variants cause a lethal form of contractures, pterygia, and spondylocarpotarsal fusion syndrome 1B","volume":"32","author":"Kamien","year":"2022","journal-title":"Neuromuscul. Disord."},{"key":"ref_134","doi-asserted-by":"crossref","first-page":"11","DOI":"10.1038\/s41525-021-00273-x","article-title":"Expanding the mutation and phenotype spectrum of MYH3-associated skeletal disorders","volume":"7","author":"Zhao","year":"2022","journal-title":"npj Genom. Med."},{"key":"ref_135","doi-asserted-by":"crossref","first-page":"2898","DOI":"10.1002\/ajmg.a.33671","article-title":"Germline mosaicism for the c.2021G>A (p.Arg674Gln) mutation in siblings with trismus pseudocamptodactyly","volume":"152","author":"Bonapace","year":"2010","journal-title":"Am. J. Med. Genet. Part A"},{"key":"ref_136","doi-asserted-by":"crossref","first-page":"186","DOI":"10.1111\/j.1601-0825.2005.01005.x","article-title":"Trismus-pseudocamptodactyly syndrome (Hecht-Beals\u2019 syndrome): Case report and literature review","volume":"11","author":"Carlos","year":"2005","journal-title":"Oral. Dis."},{"key":"ref_137","doi-asserted-by":"crossref","first-page":"1165","DOI":"10.1093\/hmg\/ddp587","article-title":"Myosin binding protein C1: A novel gene for autosomal dominant distal arthrogryposis type 1","volume":"19","author":"Gurnett","year":"2010","journal-title":"Hum. Mol. Genet."},{"key":"ref_138","doi-asserted-by":"crossref","first-page":"681","DOI":"10.1086\/368294","article-title":"Mutations in genes encoding fast-twitch contractile proteins cause distal arthrogryposis syndromes","volume":"72","author":"Sung","year":"2003","journal-title":"Am. J. Hum. Genet."},{"key":"ref_139","first-page":"285","article-title":"Titin and Nebulin in Thick and Thin Filament Length Regulation","volume":"Volume 82","author":"Parry","year":"2017","journal-title":"Fibrous Proteins: Structures and Mechanisms"},{"key":"ref_140","doi-asserted-by":"crossref","first-page":"309","DOI":"10.1055\/a-1859-0800","article-title":"Recognizable Pattern of Arthrogryposis and Congenital Myopathy Caused by the Recurrent TTN Metatranscript-only c.39974-11T>G Splice Variant","volume":"53","author":"Averdunk","year":"2022","journal-title":"Neuropediatrics"},{"key":"ref_141","doi-asserted-by":"crossref","first-page":"1105","DOI":"10.1002\/ana.25241","article-title":"Congenital Titinopathy: Comprehensive characterization and pathogenic insights","volume":"83","author":"Oates","year":"2018","journal-title":"Ann. Neurol."},{"key":"ref_142","doi-asserted-by":"crossref","unstructured":"Liu, Y., Xu, J., Lv, Q., Liang, Z., Li, L., and Pan, Q. (2023). Case report: Identification of one frameshift variant and two in cis non-canonical splice variants of NEB gene in prenatal arthrogyposis. Front. Genet., 14.","DOI":"10.3389\/fgene.2023.1220170"},{"key":"ref_143","doi-asserted-by":"crossref","first-page":"144","DOI":"10.1002\/pd.4977","article-title":"Mutations in the NEB gene cause fetal akinesia\/arthrogryposis multiplex congenita","volume":"37","author":"Chitayat","year":"2017","journal-title":"Prenat. Diagn."},{"key":"ref_144","doi-asserted-by":"crossref","first-page":"239","DOI":"10.1016\/j.nmd.2020.11.014","article-title":"A novel mutation in NEB causing foetal nemaline myopathy with arthrogryposis during early gestation","volume":"31","author":"Rocha","year":"2021","journal-title":"Neuromuscul. Disord."},{"key":"ref_145","doi-asserted-by":"crossref","first-page":"1584","DOI":"10.1212\/WNL.0b013e3182900380","article-title":"Severe congenital RYR1-associated myopathy: The expanding clinicopathologic and genetic spectrum","volume":"80","author":"Santi","year":"2013","journal-title":"Neurology"},{"key":"ref_146","doi-asserted-by":"crossref","first-page":"e1495","DOI":"10.1212\/WNL.0000000000207723","article-title":"Long-term Natural History of Pediatric Dominant and Recessive RYR1-Related Myopathy","volume":"101","author":"Sarkozy","year":"2023","journal-title":"Neurology"},{"key":"ref_147","doi-asserted-by":"crossref","first-page":"609","DOI":"10.1136\/jmedgenet-2020-106901","article-title":"Neurogenetic fetal akinesia and arthrogryposis: Genetics, expanding genotype-phenotypes and functional genomics","volume":"58","author":"Ravenscroft","year":"2021","journal-title":"J. Med. Genet."},{"key":"ref_148","doi-asserted-by":"crossref","first-page":"377","DOI":"10.3233\/JND-190383","article-title":"Dihydropyridine Receptor Congenital Myopathy In A Consangineous Turkish Family","volume":"6","author":"Hiz","year":"2019","journal-title":"J. Neuromuscul. Dis."},{"key":"ref_149","doi-asserted-by":"crossref","first-page":"14","DOI":"10.1038\/s41431-024-01644-5","article-title":"Correction: STAC3 disorder: A common cause of congenital hypotonia in Southern African patients","volume":"33","author":"Essop","year":"2024","journal-title":"Eur. J. Hum. Genet."},{"key":"ref_150","doi-asserted-by":"crossref","first-page":"587","DOI":"10.1111\/cge.14397","article-title":"DST variants are responsible for neurogenic arthrogryposis multiplex congenita enlarging the spectrum of type VI hereditary sensory autonomic neuropathy","volume":"104","author":"Capri","year":"2023","journal-title":"Clin. Genet."},{"key":"ref_151","doi-asserted-by":"crossref","first-page":"543","DOI":"10.1007\/s00439-023-02528-2","article-title":"Homozygous loss-of-function variants in FILIP1 cause autosomal recessive arthrogryposis multiplex congenita with microcephaly","volume":"142","author":"Schnabel","year":"2023","journal-title":"Hum. Genet."},{"key":"ref_152","doi-asserted-by":"crossref","first-page":"241","DOI":"10.1016\/j.nmd.2010.02.001","article-title":"Genotype-phenotype correlation in a large population of muscular dystrophy patients with LAMA2 mutations","volume":"20","author":"Geranmayeh","year":"2010","journal-title":"Neuromuscul. Disord."},{"key":"ref_153","doi-asserted-by":"crossref","unstructured":"Picker, S.M., Parker, G., and Gissen, P. (2023). Features of Congenital Arthrogryposis Due to Abnormalities in Collagen Homeostasis, a Scoping Review. Int. J. Mol. Sci., 24.","DOI":"10.3390\/ijms241713545"},{"key":"ref_154","doi-asserted-by":"crossref","first-page":"179","DOI":"10.1186\/s13023-019-1119-0","article-title":"Clinical long-time course, novel mutations and genotype-phenotype correlation in a cohort of 27 families with POMT1-related disorders","volume":"14","author":"Geis","year":"2019","journal-title":"Orphanet J. Rare Dis."},{"key":"ref_155","doi-asserted-by":"crossref","first-page":"672","DOI":"10.1590\/S0004-282X1999000400022","article-title":"Walker-Warburg syndrome: Report of two cases","volume":"57","author":"Vasconcelos","year":"1999","journal-title":"Arq. Neuropsiquiatr."},{"key":"ref_156","doi-asserted-by":"crossref","first-page":"97","DOI":"10.1111\/j.1741-4520.2003.tb01033.x","article-title":"Fukuyama-type congenital muscular dystrophy (FCMD) and alpha-dystroglycanopathy","volume":"43","author":"Toda","year":"2003","journal-title":"Congenit. Anom."},{"key":"ref_157","doi-asserted-by":"crossref","first-page":"262","DOI":"10.1038\/ejhg.2016.144","article-title":"Homozygous SYNE1 mutation causes congenital onset of muscular weakness with distal arthrogryposis: A genotype-phenotype correlation","volume":"25","author":"Baumann","year":"2017","journal-title":"Eur. J. Hum. Genet."},{"key":"ref_158","doi-asserted-by":"crossref","first-page":"170","DOI":"10.1002\/1531-8249(200008)48:2<170::AID-ANA6>3.0.CO;2-J","article-title":"Clinical and molecular genetic spectrum of autosomal dominant Emery-Dreifuss muscular dystrophy due to mutations of the lamin A\/C gene","volume":"48","author":"Bonne","year":"2000","journal-title":"Ann. Neurol."},{"key":"ref_159","doi-asserted-by":"crossref","first-page":"66","DOI":"10.5409\/wjcp.v4.i4.66","article-title":"Congenital and childhood myotonic dystrophy: Current aspects of disease and future directions","volume":"4","author":"Ho","year":"2015","journal-title":"World J. Clin. Pediatr."},{"key":"ref_160","doi-asserted-by":"crossref","first-page":"352","DOI":"10.1111\/pde.15169","article-title":"Ichthyosis, petechiae, and arthrogryposis in a neonate","volume":"40","author":"Haller","year":"2023","journal-title":"Pediatr. Dermatol."},{"key":"ref_161","first-page":"842","article-title":"Congenital ichthyosis with restrictive dermopathy and Gaucher disease: A new syndrome with associated prenatal diagnostic and pathology findings","volume":"81","author":"Sherer","year":"1993","journal-title":"Obstet. Gynecol."},{"key":"ref_162","doi-asserted-by":"crossref","first-page":"969","DOI":"10.1007\/s00431-008-0871-2","article-title":"Neonatal manifestation of multiple sulfatase deficiency","volume":"168","author":"Busche","year":"2009","journal-title":"Eur. J. Pediatr."},{"key":"ref_163","doi-asserted-by":"crossref","first-page":"86","DOI":"10.1186\/s13052-014-0086-2","article-title":"Multiple sulfatase deficiency with neonatal manifestation","volume":"40","author":"Garavelli","year":"2014","journal-title":"Ital. J. Pediatr."},{"key":"ref_164","doi-asserted-by":"crossref","first-page":"103","DOI":"10.1007\/BF02263612","article-title":"Multiple sulphatase deficiency with early onset","volume":"4","author":"Vamos","year":"1981","journal-title":"J. Inherit. Metab. Dis."},{"key":"ref_165","first-page":"402","article-title":"A familial syndrome of multiple congenital defects","volume":"114","author":"Bowen","year":"1964","journal-title":"Bull. Johns Hopkins Hosp."},{"key":"ref_166","doi-asserted-by":"crossref","first-page":"350","DOI":"10.1097\/JPN.0000000000000282","article-title":"Neonatal Rhizomelic Chondrodysplasia Punctata Type 1: Weaving Evidence Into Clinical Practice","volume":"31","author":"Landino","year":"2017","journal-title":"J. Perinat. Neonatal. Nurs."},{"key":"ref_167","doi-asserted-by":"crossref","first-page":"332","DOI":"10.1002\/ajmg.a.20009","article-title":"Natural history of rhizomelic chondrodysplasia punctata","volume":"118","author":"White","year":"2003","journal-title":"Am. J. Med. Genet. Part A"},{"key":"ref_168","first-page":"75","article-title":"Neuromuscular forms of glycogen branching enzyme deficiency","volume":"26","author":"Bruno","year":"2007","journal-title":"Acta Myol."},{"key":"ref_169","doi-asserted-by":"crossref","first-page":"534","DOI":"10.1002\/jimd.12325","article-title":"GBE1-related disorders: Adult polyglucosan body disease and its neuromuscular phenotypes","volume":"44","author":"Souza","year":"2021","journal-title":"J. Inherit. Metab. Dis."},{"key":"ref_170","doi-asserted-by":"crossref","first-page":"1053","DOI":"10.1212\/01.WNL.0000138429.11433.0D","article-title":"Clinical and genetic heterogeneity of branching enzyme deficiency (glycogenosis type IV)","volume":"63","author":"Bruno","year":"2004","journal-title":"Neurology"},{"key":"ref_171","doi-asserted-by":"crossref","first-page":"269","DOI":"10.1002\/mus.21499","article-title":"Non-lethal neonatal neuromuscular variant of glycogenosis type IV with novel GBE1 mutations","volume":"41","author":"Fernandez","year":"2010","journal-title":"Muscle Nerve"},{"key":"ref_172","doi-asserted-by":"crossref","first-page":"231","DOI":"10.1007\/s10545-014-9755-y","article-title":"Adenylosuccinate lyase deficiency","volume":"38","author":"Jurecka","year":"2015","journal-title":"J. Inherit. Metab. Dis."},{"key":"ref_173","doi-asserted-by":"crossref","first-page":"57","DOI":"10.1016\/j.jpeds.2006.09.027","article-title":"Lethal fetal and early neonatal presentation of adenylosuccinate lyase deficiency: Observation of 6 patients in 4 families","volume":"150","author":"Mouchegh","year":"2007","journal-title":"J. Pediatr."},{"key":"ref_174","doi-asserted-by":"crossref","first-page":"463","DOI":"10.1016\/j.jaapos.2015.04.011","article-title":"Recessive COL25A1 mutations cause isolated congenital ptosis or exotropic Duane syndrome with synergistic divergence","volume":"19","author":"Khan","year":"2015","journal-title":"J. Am. Assoc. Pediatr. Ophthalmol. Strabismus"},{"key":"ref_175","doi-asserted-by":"crossref","first-page":"487","DOI":"10.1002\/humu.24333","article-title":"Recessive variants in COL25A1 gene as novel cause of arthrogryposis multiplex congenita with ocular congenital cranial dysinnervation disorder","volume":"43","author":"Jurgens","year":"2022","journal-title":"Hum. Mutat."},{"key":"ref_176","doi-asserted-by":"crossref","first-page":"8","DOI":"10.1002\/ajmg.c.31552","article-title":"The 2017 international classification of the Ehlers-Danlos syndromes","volume":"175","author":"Malfait","year":"2017","journal-title":"Am. J. Med. Genet. Part C Semin. Med. Genet."},{"key":"ref_177","doi-asserted-by":"crossref","first-page":"1815","DOI":"10.1002\/ajmg.a.62718","article-title":"Bruck syndrome in 13 new patients: Identification of five novel FKBP10 and PLOD2 variants and further expansion of the phenotypic spectrum","volume":"188","author":"Otaify","year":"2022","journal-title":"Am. J. Med. Genet. Part A"},{"key":"ref_178","doi-asserted-by":"crossref","first-page":"629","DOI":"10.1136\/jmedgenet-2019-106019","article-title":"Pathogenic variants in PLOD3 result in a Stickler syndrome-like connective tissue disorder with vascular complications","volume":"56","author":"Ewans","year":"2019","journal-title":"J. Med. Genet."},{"key":"ref_179","doi-asserted-by":"crossref","first-page":"1875","DOI":"10.1007\/s00296-020-04688-0","article-title":"Syndrome of progressive deforming non-inflammatory arthritis of childhood: Two patients of camptodactyly-arthropathy-coxa vara-pericarditis syndrome","volume":"41","author":"Johnson","year":"2021","journal-title":"Rheumatol. Int."},{"key":"ref_180","doi-asserted-by":"crossref","unstructured":"Padmanabha, H., Suthar, R., Sankhyan, N., and Singhi, P. (2018). Stiffness, Facial Dysmorphism, and Skeletal Abnormalities: Schwartz-Jampel Syndrome 1A. J. Pediatr., 200.","DOI":"10.1016\/j.jpeds.2018.04.077"},{"key":"ref_181","doi-asserted-by":"crossref","unstructured":"Girisha, K.M., Bidchol, A.M., Graul-Neumann, L., Gupta, A., Hehr, U., Lessel, D., Nader, S., Shah, H., Wickert, J., and Kutsche, K. (2016). Phenotype and genotype in patients with Larsen syndrome: Clinical homogeneity and allelic heterogeneity in seven patients. BMC Med. Genet., 17.","DOI":"10.1186\/s12881-016-0290-6"},{"key":"ref_182","doi-asserted-by":"crossref","first-page":"12","DOI":"10.1159\/000444729","article-title":"St\u00fcve-Wiedemann Syndrome: Update on Clinical and Genetic Aspects","volume":"7","author":"Honjo","year":"2016","journal-title":"Mol. Syndr."}],"container-title":["Genes"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.mdpi.com\/2073-4425\/17\/6\/675\/pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,6,11]],"date-time":"2026-06-11T06:05:30Z","timestamp":1781157930000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.mdpi.com\/2073-4425\/17\/6\/675"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2026,6,9]]},"references-count":182,"journal-issue":{"issue":"6","published-online":{"date-parts":[[2026,6]]}},"alternative-id":["genes17060675"],"URL":"https:\/\/doi.org\/10.3390\/genes17060675","relation":{},"ISSN":["2073-4425"],"issn-type":[{"value":"2073-4425","type":"electronic"}],"subject":[],"published":{"date-parts":[[2026,6,9]]}}}