{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,30]],"date-time":"2026-04-30T23:17:17Z","timestamp":1777591037249,"version":"3.51.4"},"reference-count":56,"publisher":"MDPI AG","issue":"11","license":[{"start":{"date-parts":[[2023,10,28]],"date-time":"2023-10-28T00:00:00Z","timestamp":1698451200000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Brain Sciences"],"abstract":"<jats:p>Dystrophinopathies are muscle diseases caused by pathogenic variants in DMD, the largest gene described in humans, representing a spectrum of diseases ranging from asymptomatic creatine phosphokinase elevation to severe Duchenne muscular dystrophy (DMD). Several therapeutic strategies are currently in use or under development, each targeting different pathogenic variants. However, little is known about the genetic profiles of northeast Brazilian patients with dystrophinopathies. We describe the spectrum of pathogenic DMD variants in a single center in northeast Brazil. This is an observational, cross-sectional study carried out through molecular-genetic analysis of male patients diagnosed with dystrophinopathies using Multiplex Ligation-dependent Probe Amplification (MLPA) followed by Next-Generation Sequencing (NGS)-based strategies. A total of 94 male patients were evaluated. Deletions (43.6%) and duplications (10.6%) were the most recurring patterns of pathogenic variants. However, small variants were present in 47.1% of patients, most of them nonsense variants (27.6%). This is the largest South American single-center case series of dystrophinopathies to date. We found a higher frequency of treatment-amenable nonsense single-nucleotide variants than most previous studies. These findings may have implications for diagnostic strategies in less-known populations, as a higher frequency of nonsense variants may mean a higher possibility of treating patients with disease-modifying drugs.<\/jats:p>","DOI":"10.3390\/brainsci13111521","type":"journal-article","created":{"date-parts":[[2023,10,30]],"date-time":"2023-10-30T09:27:28Z","timestamp":1698658048000},"page":"1521","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":6,"title":["Higher Prevalence of Nonsense Pathogenic DMD Variants in a Single-Center Cohort from Brazil: A Genetic Profile Study That May Guide the Choice of Disease-Modifying Treatments"],"prefix":"10.3390","volume":"13","author":[{"given":"Vitor Lucas Lopes","family":"Braga","sequence":"first","affiliation":[{"name":"Division of Pediatry, Hospital Infantil Albert Sabin, Fortaleza 60410-794, CE, Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4591-727X","authenticated-orcid":false,"given":"Danielle Pessoa","family":"Lima","sequence":"additional","affiliation":[{"name":"Division of Geriatry, Walter Cantidio University Hospital, Federal University of Ceara, Fortaleza 60430-372, CE, Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Tamiris Carneiro","family":"Mariano","sequence":"additional","affiliation":[{"name":"Division of Neurogenetics and Neuromuscular Disorders, Hospital Infantil Albert Sabin, Fortaleza 60410-794, CE, Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8517-2324","authenticated-orcid":false,"given":"Pedro Lucas Grangeiro de S\u00e1 Barreto","family":"Lima","sequence":"additional","affiliation":[{"name":"Faculty of Medicine, Federal University of Ceara, Fortaleza 60020-181, CE, Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ana Beatriz de Almeida","family":"Maia","sequence":"additional","affiliation":[{"name":"Division of Pediatry, Hospital Infantil Albert Sabin, Fortaleza 60410-794, CE, Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Wallace William","family":"da Silva Meireles","sequence":"additional","affiliation":[{"name":"Secretaria Estadual de Sa\u00fade do Distrito Federal, Sobradinho 73010-124, DF, Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"K\u00e9cia Tavares","family":"de Oliveira Pessoa","sequence":"additional","affiliation":[{"name":"Division of Nutrition, Hospital Infantil Albert Sabin, Fortaleza 60410-794, CE, Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Cristiane Mattos","family":"de Oliveira","sequence":"additional","affiliation":[{"name":"Division of Physiotherapy, Hospital Infantil Albert Sabin, Fortaleza 60410-794, CE, Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Erlane Marques","family":"Ribeiro","sequence":"additional","affiliation":[{"name":"Division of Genetics, Hospital Infantil Albert Sabin, Fortaleza 60410-794, CE, Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Paulo Ribeiro","family":"N\u00f3brega","sequence":"additional","affiliation":[{"name":"Division of Neurology, Walter Cantidio University Hospital, Federal University of Ceara, Fortaleza 60430-372, CE, Brazil"},{"name":"Campus Parque Ecol\u00f3gico, Centro Universit\u00e1rio Christus, Fortaleza 60160-230, CE, Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0043-5373","authenticated-orcid":false,"given":"Andr\u00e9 Luiz Santos","family":"Pessoa","sequence":"additional","affiliation":[{"name":"Albert Sabin Children\u2019s Hospital, Fortaleza 60410-794, CE, Brazil"},{"name":"Faculty of Medicine, State University of Cear\u00e1 (UECE), Fortaleza 60714-903, CE, Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"1968","published-online":{"date-parts":[[2023,10,28]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"731","DOI":"10.1016\/S1474-4422(03)00585-4","article-title":"Dystrophin and Mutations: One Gene, Several Proteins, Multiple Phenotypes","volume":"2","author":"Muntoni","year":"2003","journal-title":"Lancet Neurol."},{"key":"ref_2","doi-asserted-by":"crossref","first-page":"509","DOI":"10.1016\/0092-8674(87)90504-6","article-title":"Complete Cloning of the Duchenne Muscular Dystrophy (DMD) CDNA and Preliminary Genomic Organization of the DMD Gene in Normal and Affected Individuals","volume":"50","author":"Koenig","year":"1987","journal-title":"Cell"},{"key":"ref_3","doi-asserted-by":"crossref","first-page":"395","DOI":"10.1002\/humu.22758","article-title":"The TREAT-NMD DMD Global Database: Analysis of More than 7,000 Duchenne Muscular Dystrophy Mutations","volume":"36","author":"Bladen","year":"2015","journal-title":"Hum. Mutat."},{"key":"ref_4","doi-asserted-by":"crossref","first-page":"159","DOI":"10.1186\/s13023-023-02767-6","article-title":"Estimated Costs for Duchenne Muscular Dystrophy Care in Brazil","volume":"18","author":"Schneider","year":"2023","journal-title":"Orphanet. J. Rare Dis."},{"key":"ref_5","doi-asserted-by":"crossref","first-page":"199","DOI":"10.1111\/cge.12975","article-title":"Genetic Profile of Brazilian Patients with Dystrophinopathies","volume":"92","author":"Manzoli","year":"2017","journal-title":"Clin. Genet."},{"key":"ref_6","doi-asserted-by":"crossref","first-page":"369","DOI":"10.1055\/s-0035-1558982","article-title":"Dystrophinopathies","volume":"35","author":"Brandsema","year":"2015","journal-title":"Semin. Neurol."},{"key":"ref_7","doi-asserted-by":"crossref","first-page":"615","DOI":"10.1136\/jmg-2022-108828","article-title":"Genetic Diagnosis of Duchenne and Becker Muscular Dystrophy through MRNA Analysis: New Splicing Events","volume":"60","author":"Camacho","year":"2023","journal-title":"J. Med. Genet."},{"key":"ref_8","doi-asserted-by":"crossref","first-page":"2025","DOI":"10.1016\/S0140-6736(19)32910-1","article-title":"Muscular Dystrophies","volume":"394","author":"Mercuri","year":"2019","journal-title":"Lancet"},{"key":"ref_9","doi-asserted-by":"crossref","first-page":"727","DOI":"10.1002\/mus.25396","article-title":"Consecutive Analysis of Mutation Spectrum in the Dystrophin Gene of 507 Korean Boys with Duchenne\/Becker Muscular Dystrophy in a Single Center","volume":"55","author":"Cho","year":"2017","journal-title":"Muscle Nerve"},{"key":"ref_10","doi-asserted-by":"crossref","first-page":"217","DOI":"10.1002\/(SICI)1098-1004(1997)10:3<217::AID-HUMU7>3.0.CO;2-F","article-title":"Novel Point Mutations in the Dystrophin Gene","volume":"10","author":"Sitnik","year":"1997","journal-title":"Hum. Mutat."},{"key":"ref_11","doi-asserted-by":"crossref","first-page":"405","DOI":"10.1038\/gim.2015.30","article-title":"Standards and Guidelines for the Interpretation of Sequence Variants: A Joint Consensus Recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology","volume":"17","author":"Richards","year":"2015","journal-title":"Genet. Med."},{"key":"ref_12","doi-asserted-by":"crossref","first-page":"557","DOI":"10.1002\/humu.21438","article-title":"LOVD v.2.0: The next Generation in Gene Variant Databases","volume":"32","author":"Fokkema","year":"2011","journal-title":"Hum. Mutat."},{"key":"ref_13","unstructured":"(2023, October 10). Censo Demogr\u00e1fico, Available online: https:\/\/censo2022.ibge.gov.br\/."},{"key":"ref_14","doi-asserted-by":"crossref","first-page":"220","DOI":"10.1590\/S1415-47572010005000020","article-title":"Inbreeding Levels in Northeast Brazil: Strategies for the Prospecting of New Genetic Disorders","volume":"33","author":"Santos","year":"2010","journal-title":"Genet. Mol. Biol."},{"key":"ref_15","doi-asserted-by":"crossref","first-page":"240","DOI":"10.1159\/000095920","article-title":"Copy Number Variation in the Genome; the Human DMD Gene as an Example","volume":"115","author":"White","year":"2006","journal-title":"Cytogenet. Genome Res."},{"key":"ref_16","doi-asserted-by":"crossref","first-page":"20","DOI":"10.1186\/1744-9081-4-20","article-title":"Similarity of DMD Gene Deletion and Duplication in the Chinese Patients Compared to Global Populations","volume":"4","author":"Wang","year":"2008","journal-title":"Behav. Brain Funct."},{"key":"ref_17","doi-asserted-by":"crossref","first-page":"552","DOI":"10.1007\/s100380200084","article-title":"Comparative Study on Deletions of the Dystrophin Gene in Three Asian Populations","volume":"47","author":"Lai","year":"2002","journal-title":"J. Hum. Genet."},{"key":"ref_18","doi-asserted-by":"crossref","first-page":"648390","DOI":"10.3389\/fphar.2021.648390","article-title":"Theragnosis for Duchenne Muscular Dystrophy","volume":"12","author":"Luce","year":"2021","journal-title":"Front. Pharmacol."},{"key":"ref_19","doi-asserted-by":"crossref","first-page":"5334","DOI":"10.3390\/ijms16035334","article-title":"Comparison of Mutation Profiles in the Duchenne Muscular Dystrophy Gene among Populations: Implications for Potential Molecular Therapies","volume":"16","author":"Bunyan","year":"2015","journal-title":"Int. J. Mol. Sci."},{"key":"ref_20","doi-asserted-by":"crossref","first-page":"137","DOI":"10.1016\/j.neuarg.2018.05.001","article-title":"An\u00e1lisis Del Espectro Mutacional de La Distrofia Muscular de Duchenne En Un Grupo de Pacientes Colombianos","volume":"10","author":"Pineda","year":"2018","journal-title":"Neurol. Argent."},{"key":"ref_21","doi-asserted-by":"crossref","first-page":"1630","DOI":"10.1002\/humu.23850","article-title":"Phenotype Predictions for Exon Deletions\/Duplications: A User Guide for Professionals and Clinicians Using Becker and Duchenne Muscular Dystrophy as Examples","volume":"40","year":"2019","journal-title":"Hum. Mutat."},{"key":"ref_22","doi-asserted-by":"crossref","first-page":"465","DOI":"10.1017\/S0317167100011896","article-title":"A Population-Based Study of Dystrophin Mutations in Canada","volume":"38","author":"Mah","year":"2011","journal-title":"Can. J. Neurol. Sci."},{"key":"ref_23","doi-asserted-by":"crossref","first-page":"399","DOI":"10.2147\/TACG.S317721","article-title":"Genetic Profile of the Dystrophin Gene Reveals New Mutations in Colombian Patients Affected with Muscular Dystrophinopathy","volume":"14","author":"Restrepo","year":"2021","journal-title":"Appl. Clin. Genet."},{"key":"ref_24","doi-asserted-by":"crossref","unstructured":"Alc\u00e1ntara-Ortigoza, M.A., Reyna-Fabi\u00e1n, M.E., Gonz\u00e1lez-Del Angel, A., Estandia-Ortega, B., Berm\u00fadez-L\u00f3pez, C., Cruz-Miranda, G.M., and Ru\u00edz-Garc\u00eda, M. (2019). Predominance of Dystrophinopathy Genotypes in Mexican Male Patients Presenting as Muscular Dystrophy with A Normal Multiplex Polymerase Chain Reaction DMD Gene Result: A Study Including Targeted Next-Generation Sequencing. Genes, 10.","DOI":"10.3390\/genes10110856"},{"key":"ref_25","doi-asserted-by":"crossref","first-page":"189","DOI":"10.1016\/j.nmd.2008.11.003","article-title":"Becker Muscular Dystrophy Caused by an Intronic Mutation Reducing the Efficiency of the Splice Donor Site of Intron 26 of the Dystrophin Gene","volume":"19","author":"Baskin","year":"2009","journal-title":"Neuromuscul. Disord."},{"key":"ref_26","doi-asserted-by":"crossref","first-page":"135","DOI":"10.1002\/mus.20586","article-title":"Entries in the Leiden Duchenne Muscular Dystrophy Mutation Database: An Overview of Mutation Types and Paradoxical Cases That Confirm the Reading-Frame Rule","volume":"34","author":"Fokkema","year":"2006","journal-title":"Muscle Nerve"},{"key":"ref_27","doi-asserted-by":"crossref","first-page":"109","DOI":"10.1186\/s13023-018-0853-z","article-title":"Comprehensive Genetic Characteristics of Dystrophinopathies in China","volume":"13","author":"Ma","year":"2018","journal-title":"Orphanet J. Rare Dis."},{"key":"ref_28","doi-asserted-by":"crossref","first-page":"S303","DOI":"10.3233\/JND-210678","article-title":"Gene Therapy for Duchenne Muscular Dystrophy","volume":"8","author":"Elangkovan","year":"2021","journal-title":"J. Neuromuscul. Dis."},{"key":"ref_29","doi-asserted-by":"crossref","first-page":"251","DOI":"10.1016\/S1474-4422(18)30024-3","article-title":"Diagnosis and Management of Duchenne Muscular Dystrophy, Part 1: Diagnosis, and Neuromuscular, Rehabilitation, Endocrine, and Gastrointestinal and Nutritional Management","volume":"17","author":"Birnkrant","year":"2018","journal-title":"Lancet Neurol."},{"key":"ref_30","doi-asserted-by":"crossref","unstructured":"Sun, C., Shen, L., Zhang, Z., and Xie, X. (2020). Therapeutic Strategies for Duchenne Muscular Dystrophy: An Update. Genes, 11.","DOI":"10.3390\/genes11080837"},{"key":"ref_31","doi-asserted-by":"crossref","first-page":"S343","DOI":"10.3233\/JND-210682","article-title":"Exon-Skipping in Duchenne Muscular Dystrophy","volume":"8","author":"Takeda","year":"2021","journal-title":"J. Neuromuscul. Dis."},{"key":"ref_32","doi-asserted-by":"crossref","first-page":"401","DOI":"10.1212\/WNL.0000000000002891","article-title":"DMD Genotypes and Loss of Ambulation in the CINRG Duchenne Natural History Study","volume":"87","author":"Bello","year":"2016","journal-title":"Neurology"},{"key":"ref_33","doi-asserted-by":"crossref","first-page":"979","DOI":"10.1111\/dmcn.15176","article-title":"Peak Functional Ability and Age at Loss of Ambulation in Duchenne Muscular Dystrophy","volume":"64","author":"Zambon","year":"2022","journal-title":"Dev. Med. Child Neurol."},{"key":"ref_34","unstructured":"Darras, B.T., Urion, D.K., and Ghosh, P.S. (2022). GeneReviews\u00ae, University of Washington."},{"key":"ref_35","doi-asserted-by":"crossref","first-page":"271","DOI":"10.1016\/0167-5273(90)90082-G","article-title":"The Incidence and Evolution of Cardiomyopathy in Duchenne Muscular Dystrophy","volume":"26","author":"Nigro","year":"1990","journal-title":"Int. J. Cardiol."},{"key":"ref_36","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_37","doi-asserted-by":"crossref","first-page":"E001782","DOI":"10.1161\/CIRCGEN.117.001782","article-title":"Cardiac Dysfunction in Duchenne Muscular Dystrophy Is Less Frequent in Patients with Mutations in the Dystrophin Dp116 Coding Region Than in Other Regions","volume":"11","author":"Yamamoto","year":"2018","journal-title":"Circ. Genom. Precis. Med."},{"key":"ref_38","doi-asserted-by":"crossref","first-page":"465","DOI":"10.1212\/WNL.0000000000002337","article-title":"Practice Guideline Update Summary: Corticosteroid Treatment of Duchenne Muscular Dystrophy: Report of the Guideline Development Subcommittee of the American Academy of Neurology","volume":"86","author":"Gloss","year":"2016","journal-title":"Neurology"},{"key":"ref_39","first-page":"CD003725","article-title":"Corticosteroids for the Treatment of Duchenne Muscular Dystrophy","volume":"2016","author":"Matthews","year":"2016","journal-title":"Cochrane Database Syst. Rev."},{"key":"ref_40","first-page":"16","article-title":"The Canadian Experience with Long Term Deflazacort Treatment in Duchenne Muscular Dystrophy","volume":"31","author":"McAdam","year":"2012","journal-title":"Acta Myol."},{"key":"ref_41","doi-asserted-by":"crossref","first-page":"451","DOI":"10.1016\/S0140-6736(17)32160-8","article-title":"Long-Term Effects of Glucocorticoids on Function, Quality of Life, and Survival in Patients with Duchenne Muscular Dystrophy: A Prospective Cohort Study","volume":"391","author":"McDonald","year":"2018","journal-title":"Lancet"},{"key":"ref_42","doi-asserted-by":"crossref","first-page":"698","DOI":"10.1136\/jnnp-2012-303902","article-title":"On Behalf of the NorthStar Clinical Network Long-Term Benefits and Adverse Effects of Intermittent versus Daily Glucocorticoids in Boys with Duchenne Muscular Dystrophy","volume":"84","author":"Ricotti","year":"2013","journal-title":"J. Neurol. Neurosurg Psychiatry"},{"key":"ref_43","doi-asserted-by":"crossref","first-page":"368","DOI":"10.2146\/news170020","article-title":"Deflazacort Approved for Duchenne Muscular Dystrophy","volume":"74","author":"Traynor","year":"2017","journal-title":"Am. J. Health-Syst. Pharm."},{"key":"ref_44","doi-asserted-by":"crossref","first-page":"2123","DOI":"10.1212\/WNL.0000000000003217","article-title":"Efficacy and Safety of Deflazacort vs Prednisone and Placebo for Duchenne Muscular Dystrophy","volume":"87","author":"Griggs","year":"2016","journal-title":"Neurology"},{"key":"ref_45","doi-asserted-by":"crossref","first-page":"27","DOI":"10.1002\/mus.23831","article-title":"Corticosteroids in Duchenne Muscular Dystrophy: Major Variations in Practice","volume":"48","author":"Griggs","year":"2013","journal-title":"Muscle Nerve"},{"key":"ref_46","doi-asserted-by":"crossref","first-page":"81","DOI":"10.1055\/s-0043-1761466","article-title":"Update of the Brazilian Consensus Recommendations on Duchenne Muscular Dystrophy","volume":"81","author":"Saute","year":"2023","journal-title":"Arq. Neuro-Psiquiatr."},{"key":"ref_47","doi-asserted-by":"crossref","first-page":"26","DOI":"10.1002\/mus.26736","article-title":"Deflazacort vs Prednisone Treatment for Duchenne Muscular Dystrophy: A Meta-Analysis of Disease Progression Rates in Recent Multicenter Clinical Trials","volume":"61","author":"McDonald","year":"2020","journal-title":"Muscle Nerve"},{"key":"ref_48","doi-asserted-by":"crossref","first-page":"3896","DOI":"10.1007\/s00415-023-11687-1","article-title":"Safety and Effectiveness of Ataluren in Patients with Nonsense Mutation DMD in the STRIDE Registry Compared with the CINRG Duchenne Natural History Study (2015\u20132022): 2022 Interim Analysis","volume":"270","author":"Mercuri","year":"2023","journal-title":"J. Neurol."},{"key":"ref_49","doi-asserted-by":"crossref","first-page":"973","DOI":"10.2217\/cer-2020-0095","article-title":"Meta-Analyses of Ataluren Randomized Controlled Trials in Nonsense Mutation Duchenne Muscular Dystrophy","volume":"9","author":"Campbell","year":"2020","journal-title":"J. Comp. Eff. Res."},{"key":"ref_50","unstructured":"A Phase 2a Study of Ataluren (PTC124) in Nonambulatory Patients with Nonsense\u2013Mutation-Mediated Duchenne\/Becker Muscular Dystrophy\u2014Study of Ataluren in Nonambulatory Patients with DMD\/BMD (Standard No. EUCTR2009-013169-24-GB). Available online: https:\/\/trialsearch.who.int\/Trial2.aspx?TrialID=EUCTR2009-013169-24-GB."},{"key":"ref_51","doi-asserted-by":"crossref","first-page":"1489","DOI":"10.1016\/S0140-6736(17)31611-2","article-title":"Ataluren in Patients with Nonsense Mutation Duchenne Muscular Dystrophy (ACT DMD): A Multicentre, Randomised, Double-Blind, Placebo-Controlled, Phase 3 Trial","volume":"390","author":"McDonald","year":"2017","journal-title":"Lancet"},{"key":"ref_52","doi-asserted-by":"crossref","unstructured":"McDonald, C.M., Wu, S., Gulati, S., Komaki, H., Escobar, R.E., Kostera-Pruszczyk, A., Vlodavets, D., Chae, J.-H., Jong, Y.-J., and Karachunski, P. (2023, September 25). Safety and Efficacy of Ataluren in NmDMD Patients from Study 041, a Phase 3, Randomized, Double-Blind, Placebo-Controlled Trial (PL5.001). Available online: https:\/\/www.mdaconference.org\/abstract-library\/safety-and-efficacy-of-ataluren-in-nmdmd-patients-from-study-041-a-phase-3-randomized-double-blind-placebo-controlled-trial\/.","DOI":"10.1212\/WNL.0000000000202505"},{"key":"ref_53","unstructured":"(2023, October 10). EMA Recommends Non-Renewal of Authorisation of Duchenne Muscular Dystrophy Medicine Translarna|European Medicines Agency. Available online: https:\/\/www.ema.europa.eu\/en\/news\/ema-recommends-non-renewal-authorisation-duchenne-muscular-dystrophy-medicine-translarna."},{"key":"ref_54","doi-asserted-by":"crossref","unstructured":"Gomes, G.R.F., Mariano, T.C., Braga, V.L.L., Ribeiro, E.M., Guimar\u00e3es, I.P., Pereira, K.S.A.F., N\u00f3brega, P.R., and Pessoa, A.L.S. (2023). Bailey-Bloch Congenital Myopathy in Brazilian Patients: A Very Rare Myopathy with Malignant Hyperthermia Susceptibility. Brain Sci., 13.","DOI":"10.3390\/brainsci13081184"},{"key":"ref_55","doi-asserted-by":"crossref","first-page":"405","DOI":"10.1136\/jnnp-2022-330135","article-title":"Ceroid Lipofuscinosis Type 5: Novel Pathogenic Variants and Unexpected Phenotypic Findings","volume":"94","author":"Pessoa","year":"2023","journal-title":"J. Neurol. Neurosurg Psychiatry"},{"key":"ref_56","doi-asserted-by":"crossref","first-page":"319","DOI":"10.1007\/s10072-022-06388-y","article-title":"Aseptic Meningitis in Fabry Disease Due to a Novel GLA Variant: An Expanded Phenotype?","volume":"44","author":"Morais","year":"2023","journal-title":"Neurol. Sci."}],"container-title":["Brain Sciences"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.mdpi.com\/2076-3425\/13\/11\/1521\/pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,10]],"date-time":"2025-10-10T21:13:16Z","timestamp":1760130796000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.mdpi.com\/2076-3425\/13\/11\/1521"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2023,10,28]]},"references-count":56,"journal-issue":{"issue":"11","published-online":{"date-parts":[[2023,11]]}},"alternative-id":["brainsci13111521"],"URL":"https:\/\/doi.org\/10.3390\/brainsci13111521","relation":{},"ISSN":["2076-3425"],"issn-type":[{"value":"2076-3425","type":"electronic"}],"subject":[],"published":{"date-parts":[[2023,10,28]]}}}