{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,1]],"date-time":"2026-10-01T05:49:58Z","timestamp":1790833798175,"version":"4.1.0"},"reference-count":114,"publisher":"MDPI AG","issue":"1","license":[{"start":{"date-parts":[[2023,1,14]],"date-time":"2023-01-14T00:00:00Z","timestamp":1673654400000},"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>Dystrophinopathies are X-linked recessive muscle disorders caused by mutations in the dystrophin (DMD) gene that include deletions, duplications, and point mutations. Correct diagnosis is important for providing adequate patient care and family planning, especially at this time when mutation-specific therapies are available. We report a large single-centre study on the spectrum of DMD gene variants observed in 750 patients analyzed for suspected Duchenne (DMD) or Becker (BMD) muscular dystrophy, over the past 30 years, at the Cardiomyology and Medical Genetics of the University of Campania. We found 534 (71.21%) large deletions, 73 (9.73%) large duplications, and 112 (14.93%) point mutations, of which 44 (5.9%) were small ins\/del causing frame-shifts, 57 (7.6%) nonsense mutations, 8 (1.1%) splice site and 3 (0.4%) intronic mutations, and 31 (4.13%) non mutations. Moreover, we report the prevalence of the different types of mutations in patients with DMD and BMD according to their decade of birth, from 1930 to 2020, and correlate the data to the different techniques used over the years. In the most recent decades, we observed an apparent increase in the prevalence of point mutations, probably due to the use of Next-Generation Sequencing (NGS). In conclusion, in southern Italy, deletions are the most frequent variation observed in DMD and BMD patients followed by point mutations and duplications, as elsewhere in the world. NGS was useful to identify point mutations in cases of strong suspicion of DMD\/BMD negative on deletions\/duplications analyses. In the era of personalized medicine and availability of new causative therapies, a collective effort is necessary to enable DMD and BMD patients to have timely genetic diagnoses and avoid late implementation of standard of care and late initiation of appropriate treatment.<\/jats:p>","DOI":"10.3390\/genes14010214","type":"journal-article","created":{"date-parts":[[2023,1,16]],"date-time":"2023-01-16T03:10:34Z","timestamp":1673838634000},"page":"214","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":27,"title":["Spectrum of Genetic Variants in the Dystrophin Gene: A Single Centre Retrospective Analysis of 750 Duchenne and Becker Patients from Southern Italy"],"prefix":"10.3390","volume":"14","author":[{"given":"Emanuela","family":"Viggiano","sequence":"first","affiliation":[{"name":"Department of Prevention, Hygiene and Public Health Service, ASL Roma 2, 00157 Rome, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Esther","family":"Picillo","sequence":"additional","affiliation":[{"name":"Medical Genetics and Cardiomyology, Department of Precision Medicine, University of Campania \u201cLuigi Vanvitelli\u201d, 80138 Napoli, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Luigia","family":"Passamano","sequence":"additional","affiliation":[{"name":"Medical Genetics and Cardiomyology, Department of Precision Medicine, University of Campania \u201cLuigi Vanvitelli\u201d, 80138 Napoli, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-8329-0215","authenticated-orcid":false,"given":"Maria","family":"Onore","sequence":"additional","affiliation":[{"name":"Medical Genetics and Cardiomyology, Department of Precision Medicine, University of Campania \u201cLuigi Vanvitelli\u201d, 80138 Napoli, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9418-125X","authenticated-orcid":false,"given":"Giulio","family":"Piluso","sequence":"additional","affiliation":[{"name":"Medical Genetics and Cardiomyology, Department of Precision Medicine, University of Campania \u201cLuigi Vanvitelli\u201d, 80138 Napoli, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marianna","family":"Scutifero","sequence":"additional","affiliation":[{"name":"Medical Genetics and Cardiomyology, Department of Precision Medicine, University of Campania \u201cLuigi Vanvitelli\u201d, 80138 Napoli, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-2479-6018","authenticated-orcid":false,"given":"Annalaura","family":"Torella","sequence":"additional","affiliation":[{"name":"Medical Genetics and Cardiomyology, Department of Precision Medicine, University of Campania \u201cLuigi Vanvitelli\u201d, 80138 Napoli, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Vincenzo","family":"Nigro","sequence":"additional","affiliation":[{"name":"Medical Genetics and Cardiomyology, Department of Precision Medicine, University of Campania \u201cLuigi Vanvitelli\u201d, 80138 Napoli, Italy"},{"name":"Telethon Institute of Genetics and Medicine, 80078 Pozzuoli, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0925-7158","authenticated-orcid":false,"given":"Luisa","family":"Politano","sequence":"additional","affiliation":[{"name":"Cardiomyology and Medical Genetics, Department of Experimental Medicine, University of Campania \u201cLuigi Vanvitelli\u201d, 80138 Napoli, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2023,1,14]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"687","DOI":"10.1016\/S0140-6736(02)07815-7","article-title":"The muscular dystrophies","volume":"359","author":"Emery","year":"2002","journal-title":"Lancet"},{"key":"ref_2","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_3","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_4","doi-asserted-by":"crossref","first-page":"919","DOI":"10.1016\/0092-8674(87)90579-4","article-title":"Dystrophin: The protein product of the Duchenne muscular dystrophy locus","volume":"51","author":"Hoffman","year":"1987","journal-title":"Cell"},{"key":"ref_5","doi-asserted-by":"crossref","first-page":"1019","DOI":"10.1016\/0896-6273(89)90226-2","article-title":"Dystrophin abnormalities in Duchenne\/Becker muscular dystrophy","volume":"2","author":"Hoffman","year":"1989","journal-title":"Neuron"},{"key":"ref_6","doi-asserted-by":"crossref","first-page":"293","DOI":"10.3233\/JND-170280","article-title":"Clinical Outcomes in Duchenne Muscular Dystrophy: A Study of 5345 Patients from the TREAT-NMD DMD Global Database","volume":"4","author":"Koeks","year":"2017","journal-title":"J. Neuromuscul. Dis."},{"key":"ref_7","first-page":"179","article-title":"Causes of clinical variability in Duchenne and Becker muscular dystrophies and implications for exon skipping therapies","volume":"39","author":"Hoffman","year":"2020","journal-title":"Acta Myol."},{"key":"ref_8","doi-asserted-by":"crossref","first-page":"5","DOI":"10.1051\/jbio:2005001","article-title":"Bases mol\u00e9culaires des dystrophinopathies [Molecular bases of dystrophinopathies]","volume":"199","author":"Leturcq","year":"2005","journal-title":"J. Soc. Biol."},{"key":"ref_9","doi-asserted-by":"crossref","first-page":"291","DOI":"10.1152\/physrev.00028.2001","article-title":"Function and Genetics of Dystrophin and Dystrophin-Related Proteins in Muscle","volume":"82","author":"Blake","year":"2002","journal-title":"Physiol. Rev."},{"key":"ref_10","doi-asserted-by":"crossref","first-page":"235","DOI":"10.1007\/BF02717892","article-title":"The rate of spontaneous mutation of a human gene","volume":"83","author":"Haldane","year":"2004","journal-title":"J. Genet."},{"key":"ref_11","first-page":"5","article-title":"Recherches sur la paralysie musculaire pseudohypertrophique ou paralysie myo-sclerosique","volume":"11","author":"Duchenne","year":"1868","journal-title":"Arch. Gen. Med."},{"key":"ref_12","first-page":"66","article-title":"Scrofola del sistema muscolare","volume":"2","author":"Conte","year":"1836","journal-title":"Ann. Clin. Osp. Incurabili Napoli"},{"key":"ref_13","first-page":"1619","article-title":"The Dystrophinopathies","volume":"25","author":"Thangarajh","year":"2019","journal-title":"Continuum"},{"key":"ref_14","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_15","unstructured":"Nigro, G., Comi, L.I., Politano, L., and Nigro, G. (2004). Cardiomyopathies associated with Muscular Dystrophies. Engel & Franzini-Armstrong: Myology, McGraw-Hill."},{"key":"ref_16","doi-asserted-by":"crossref","first-page":"1701418","DOI":"10.1183\/13993003.01418-2017","article-title":"Evolution of respiratory function in Duchenne muscular dystrophy from childhood to adulthood","volume":"51","author":"LoMauro","year":"2018","journal-title":"Eur. Respir. J."},{"key":"ref_17","doi-asserted-by":"crossref","first-page":"1472","DOI":"10.1177\/0883073815570154","article-title":"Cognitive and Neurobehavioral Profile in Boys With Duchenne Muscular Dystrophy","volume":"30","author":"Banihani","year":"2015","journal-title":"J. Child Neurol."},{"key":"ref_18","doi-asserted-by":"crossref","first-page":"347","DOI":"10.1007\/BF01525003","article-title":"Serum levels of myoglobin and creatine kinase in duchenne muscular dystrophy","volume":"59","author":"Kiessling","year":"1981","journal-title":"Klin. Wochenschr."},{"key":"ref_19","doi-asserted-by":"crossref","first-page":"427","DOI":"10.1007\/BF00343141","article-title":"A new X-chromosomal muscular dystrophy","volume":"193","author":"Becker","year":"1955","journal-title":"Arch. Psychiatr. Nervenkr Z Gesamte Neurol. Psychiatry"},{"key":"ref_20","doi-asserted-by":"crossref","first-page":"98","DOI":"10.1007\/BF00858725","article-title":"The clinical, genetic and dystrophin characteristics of Becker muscular dystrophy. I. Natural history","volume":"240","author":"Bushby","year":"1993","journal-title":"J. Neurol."},{"key":"ref_21","doi-asserted-by":"crossref","first-page":"105","DOI":"10.1007\/BF00858726","article-title":"The clinical, genetic and dystrophin characteristics of Becker muscular dystrophy. II. Correlation of phenotype with genetic and protein abnormalities","volume":"240","author":"Bushby","year":"1993","journal-title":"J. Neurol."},{"key":"ref_22","doi-asserted-by":"crossref","first-page":"127","DOI":"10.1038\/jhg.2008.8","article-title":"Characterization of deletion breakpoints in patients with dystrophinopathy carrying a deletion of exons 45\u201355 of the Duchenne muscular dystrophy (DMD) gene","volume":"54","author":"Miyazaki","year":"2009","journal-title":"J. Hum. Genet."},{"key":"ref_23","first-page":"9","article-title":"Clinical features of patients with dystrophinopathy sharing the 45\u201355 exon deletion of DMD gene","volume":"34","author":"Taglia","year":"2015","journal-title":"Acta Myol."},{"key":"ref_24","doi-asserted-by":"crossref","first-page":"283","DOI":"10.1002\/mus.880180304","article-title":"Evaluation of the cardiomyopathy in becker muscular dystrophy","volume":"18","author":"Nigro","year":"1995","journal-title":"Muscle Nerve"},{"key":"ref_25","doi-asserted-by":"crossref","first-page":"1760","DOI":"10.1016\/S0735-1097(00)00650-1","article-title":"Prevalence and characteristics of the dystrophin defects in adult male patients with dilated cardiomyopathy","volume":"35","author":"Arbustini","year":"2000","journal-title":"J. Am. Coll. Cardiol."},{"key":"ref_26","doi-asserted-by":"crossref","first-page":"1267","DOI":"10.1093\/hmg\/ddu537","article-title":"French network of clinical reference centres for neuromuscular diseases (CORNEMUS). Becker muscular dystrophy severity is linked to the structure of dystrophin","volume":"24","author":"Nicolas","year":"2015","journal-title":"Hum. Mol. Genet."},{"key":"ref_27","doi-asserted-by":"crossref","first-page":"371","DOI":"10.1016\/0960-8966(94)90073-6","article-title":"Mutation of dystrophin gene and cardiomyopathy","volume":"4","author":"Nigro","year":"1994","journal-title":"Neuromuscul. Disord."},{"key":"ref_28","doi-asserted-by":"crossref","first-page":"544","DOI":"10.1161\/CIRCGENETICS.109.867242","article-title":"Analysis of Dystrophin Deletion Mutations Predicts Age of Cardiomyopathy Onset in Becker Muscular Dystrophy","volume":"2","author":"Kaspar","year":"2009","journal-title":"Circ. Cardiovasc. Genet."},{"key":"ref_29","doi-asserted-by":"crossref","first-page":"95","DOI":"10.5582\/irdr.2017.01024","article-title":"Heart transplantation in patients with dystrophinopathic cardiomyopathy: Review of the literature and personal series","volume":"6","author":"Papa","year":"2017","journal-title":"Intractable Rare Dis. Res."},{"key":"ref_30","first-page":"584","article-title":"Is Becker Dystrophinopathy a Contraindication to Heart Transplant? Experience in a Single Institution","volume":"72","year":"2019","journal-title":"Rev. Esp. Cardiol."},{"key":"ref_31","doi-asserted-by":"crossref","first-page":"1854","DOI":"10.1161\/01.CIR.87.6.1854","article-title":"X-linked dilated cardiomyopathy. Molecular genetic evidence of linkage to the Duchenne muscular dystrophy (dystrophin) gene at the Xp21 locus","volume":"87","author":"Towbin","year":"1993","journal-title":"Circulation"},{"key":"ref_32","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_33","doi-asserted-by":"crossref","first-page":"339","DOI":"10.1016\/S0960-8966(99)00015-2","article-title":"X-linked dilated cardiomyopathy and the dystrophin gene","volume":"9","author":"Ferlini","year":"1999","journal-title":"Neuromuscul. Disord."},{"key":"ref_34","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_35","doi-asserted-by":"crossref","first-page":"31","DOI":"10.1111\/j.1399-0004.1989.tb03363.x","article-title":"A survey of manifesting carriers of Duchenne and Becker muscular dystrophy in Wales","volume":"36","author":"Norman","year":"1989","journal-title":"Clin. Genet."},{"key":"ref_36","doi-asserted-by":"crossref","first-page":"172","DOI":"10.1016\/j.nmd.2010.11.001","article-title":"Symptomatic dystrophinopathies in female children","volume":"21","author":"Seemann","year":"2011","journal-title":"Neuromuscul. Disord."},{"key":"ref_37","doi-asserted-by":"crossref","first-page":"1335","DOI":"10.1001\/jama.1996.03530410049032","article-title":"Development of cardiomyopathy in female carriers of Duchenne and Becker muscular dystrophies","volume":"275","author":"Politano","year":"1996","journal-title":"JAMA"},{"key":"ref_38","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_39","doi-asserted-by":"crossref","first-page":"186","DOI":"10.1016\/S0960-8966(00)00185-1","article-title":"Cardiac abnormalities and skeletal muscle weakness in carriers of Duchenne and Becker muscular dystrophies and controls","volume":"11","author":"Grain","year":"2001","journal-title":"Neuromuscul. Disord."},{"key":"ref_40","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_41","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_42","doi-asserted-by":"crossref","first-page":"224","DOI":"10.1111\/apa.14568","article-title":"A mini-review and implementation model for using ataluren to treat nonsense muta-tion Duchenne muscular dystrophy","volume":"108","author":"Landfeldt","year":"2019","journal-title":"Acta Paediatr."},{"key":"ref_43","doi-asserted-by":"crossref","first-page":"45","DOI":"10.1007\/BF00205170","article-title":"Detection of 98% of DMD\/BMD gene deletions by polymerase chain reaction","volume":"86","author":"Beggs","year":"1990","journal-title":"Hum. Genet."},{"key":"ref_44","doi-asserted-by":"crossref","first-page":"255","DOI":"10.1002\/jcb.240460309","article-title":"PCR analysis of dystrophin gene mutation and expression","volume":"46","author":"Chamberlain","year":"1991","journal-title":"J. Cell. Biochem."},{"key":"ref_45","first-page":"9.3.1","article-title":"Multiplex PCR for Identifying DMD Gene Deletions","volume":"49","author":"Dunnen","year":"2006","journal-title":"Curr. Protoc. Hum. Genet."},{"key":"ref_46","doi-asserted-by":"crossref","first-page":"1231","DOI":"10.1038\/sj.ejhg.5201465","article-title":"Deletion and duplication screening in the DMD gene using MLPA","volume":"13","author":"Lalic","year":"2005","journal-title":"Eur. J. Hum. Genet."},{"key":"ref_47","doi-asserted-by":"crossref","first-page":"427","DOI":"10.1089\/gtmb.2009.0002","article-title":"Small Mutations Detected by Multiplex Ligation\u2013Dependent Probe Amplification of the Dystrophin Gene","volume":"13","author":"Okizuka","year":"2009","journal-title":"Genet. Test. Mol. Biomark."},{"key":"ref_48","doi-asserted-by":"crossref","first-page":"361","DOI":"10.1089\/gte.2004.8.361","article-title":"Improved Molecular Diagnosis of Dystrophin Gene Mutations Using the Multiplex Ligation-Dependent Probe Amplification Method","volume":"8","author":"Schwartz","year":"2004","journal-title":"Genet. Test."},{"key":"ref_49","first-page":"e59","article-title":"Overview of Next Generation Sequencing technologies (and bioinformatics) in cancer","volume":"122","author":"Slatko","year":"2018","journal-title":"Mol. Biol."},{"key":"ref_50","doi-asserted-by":"crossref","first-page":"523","DOI":"10.1097\/WCO.0000000000000478","article-title":"The rapid evolution of molecular genetic diagnostics in neuromuscular diseases","volume":"30","author":"Volk","year":"2017","journal-title":"Curr. Opin. Neurol."},{"key":"ref_51","doi-asserted-by":"crossref","first-page":"66","DOI":"10.1016\/j.cca.2019.01.014","article-title":"Molecular genetic testing and diagnosis strategies for dystrophinopathies in the era of next generation sequencing","volume":"491","author":"Zhang","year":"2019","journal-title":"Clin. Chim. Acta"},{"key":"ref_52","doi-asserted-by":"crossref","first-page":"731","DOI":"10.1136\/jmedgenet-2011-100133","article-title":"Genetic diagnosis of Duchenne and Becker muscular dystrophy using next-generation sequencing technology: Comprehensive mutational search in a single platform","volume":"48","author":"Lim","year":"2011","journal-title":"J. Med. Genet."},{"key":"ref_53","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_54","doi-asserted-by":"crossref","first-page":"517","DOI":"10.1093\/hmg\/1.7.517","article-title":"Detection of a nonsense mutation in the dystrophin gene by multiple SSCP","volume":"1","author":"Nigro","year":"1992","journal-title":"Hum. Mol. Genet."},{"key":"ref_55","doi-asserted-by":"crossref","first-page":"1907","DOI":"10.1093\/hmg\/3.10.1907","article-title":"Novel small mutations along the DMD\/BMD gene associated with different phenotypes","volume":"3","author":"Nigro","year":"1994","journal-title":"Hum. Mol. Genet."},{"key":"ref_56","doi-asserted-by":"crossref","first-page":"973","DOI":"10.1373\/clinchem.2007.097881","article-title":"Log-PCR: A New Tool for Immediate and Cost-Effective Diagnosis of up to 85% of Dystrophin Gene Mutations","volume":"54","author":"Trimarco","year":"2008","journal-title":"Clin. Chem."},{"key":"ref_57","doi-asserted-by":"crossref","first-page":"65","DOI":"10.2353\/jmoldx.2010.090074","article-title":"One Hundred Twenty-One Dystrophin Point Mutations Detected from Stored DNA Samples by Combinatorial Denaturing High-Performance Liquid Chromatography","volume":"12","author":"Torella","year":"2010","journal-title":"J. Mol. Diagn."},{"key":"ref_58","doi-asserted-by":"crossref","unstructured":"Torella, A., Zanobio, M., Zeuli, R., Del Vecchio Blanco, F., Savarese, M., Giugliano, T., Garofalo, A., Piluso, G., Politano, L., and Nigro, V. (2020). The position of nonsense mutations can predict the phenotype severity: A survey on the DMD gene. PLoS ONE, 15.","DOI":"10.1371\/journal.pone.0237803"},{"key":"ref_59","doi-asserted-by":"crossref","first-page":"477","DOI":"10.3233\/JND-200523","article-title":"Identification and Characterization of Splicing Defects by Single-Molecule Real-Time Sequencing Technology (PacBio)","volume":"7","author":"Savarese","year":"2020","journal-title":"J. Neuromuscul. Dis."},{"key":"ref_60","doi-asserted-by":"crossref","unstructured":"Onore, M.E., Torella, A., Musacchia, F., D\u2019Ambrosio, P., Zanobio, M., Blanco, F.D.V., Piluso, G., and Nigro, V. (2021). Linked-Read Whole Genome Sequencing Solves a Double DMD Gene Rearrangement. Genes, 12.","DOI":"10.3390\/genes12020133"},{"key":"ref_61","doi-asserted-by":"crossref","first-page":"1116","DOI":"10.1038\/ejhg.2014.272","article-title":"The EuroBioBank Network: 10 years of hands-on experience of collaborative, transnational biobanking for rare diseases","volume":"23","author":"Mora","year":"2014","journal-title":"Eur. J. Hum. Genet."},{"key":"ref_62","doi-asserted-by":"crossref","first-page":"129","DOI":"10.1186\/1750-1172-8-129","article-title":"Telethon Network of Genetic Biobanks: A key service for diagnosis and research on rare diseases","volume":"8","author":"Filocamo","year":"2013","journal-title":"Orphanet J. Rare Dis."},{"key":"ref_63","doi-asserted-by":"crossref","first-page":"447","DOI":"10.1016\/j.nmd.2017.02.006","article-title":"Diagnosis of Duchenne Muscular Dystrophy in Italy in the last decade: Critical issues and areas for improvements","volume":"27","author":"Catteruccia","year":"2017","journal-title":"Neuromuscul. Disord."},{"key":"ref_64","doi-asserted-by":"crossref","first-page":"131","DOI":"10.3389\/fgene.2020.00131","article-title":"The Genetic Landscape of Dystrophin Mutations in Italy: A Nationwide Study","volume":"11","author":"Neri","year":"2020","journal-title":"Front. Genet."},{"key":"ref_65","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_66","doi-asserted-by":"crossref","first-page":"934","DOI":"10.1002\/humu.20976","article-title":"Genotype-phenotype analysis in 2,405 patients with a dystrophinopathy using the UMD-DMD database: A model of nationwide knowledgebase","volume":"30","author":"Leturcq","year":"2009","journal-title":"Hum. Mutat."},{"key":"ref_67","unstructured":"(2021, October 04). The DMD Mutations Database UMD-DMD France. Available online: http:\/\/www.umd.be\/DMD\/."},{"key":"ref_68","doi-asserted-by":"crossref","first-page":"377","DOI":"10.1016\/j.nrl.2015.12.009","article-title":"Mutational spectrum of Duchenne muscular dystrophy in Spain: Study of 284 cases","volume":"32","author":"Vieitez","year":"2017","journal-title":"Neurolog\u00eda"},{"key":"ref_69","doi-asserted-by":"crossref","first-page":"988","DOI":"10.7150\/ijms.8391","article-title":"Identification of de novoMutations of Duch\u00e9nn\u00e8\/Becker Muscular Dystrophies in Southern Spain","volume":"11","author":"Garcia","year":"2014","journal-title":"Int. J. Med. Sci."},{"key":"ref_70","doi-asserted-by":"crossref","first-page":"99","DOI":"10.3233\/JND-140005","article-title":"Forty-Five Years of Duchenne Muscular Dystrophy in The Netherlands","volume":"1","author":"Ginjaar","year":"2014","journal-title":"J. Neuromuscul. Dis."},{"key":"ref_71","doi-asserted-by":"crossref","first-page":"e536","DOI":"10.1212\/NXG.0000000000000536","article-title":"Ethnicity-related DMD Genotype Landscapes in European and Non-European Countries","volume":"7","author":"Selvatici","year":"2020","journal-title":"Neurol. Genet."},{"key":"ref_72","doi-asserted-by":"crossref","first-page":"289","DOI":"10.1007\/s13353-020-00605-0","article-title":"Small mutations in Duchenne\/Becker muscular dystrophy in 164 unrelated Polish patients","volume":"62","author":"Zimowski","year":"2021","journal-title":"J. Appl. Genet."},{"key":"ref_73","doi-asserted-by":"crossref","first-page":"601","DOI":"10.1016\/j.nmd.2019.03.012","article-title":"Mutation spectrum of 260 dystrophinopathy patients from Turkey and important highlights for genetic counseling","volume":"29","author":"Toksoy","year":"2019","journal-title":"Neuromuscul. Disord."},{"key":"ref_74","doi-asserted-by":"crossref","first-page":"250","DOI":"10.1016\/j.nmd.2009.01.005","article-title":"Characterization of the DMD\/BMD patient population in Czech Republic and Slovakia using an innovative registry approach","volume":"19","author":"Brabec","year":"2009","journal-title":"Neuromuscul. Disord."},{"key":"ref_75","doi-asserted-by":"crossref","first-page":"18","DOI":"10.1186\/s40246-018-0152-8","article-title":"Molecular characterization of exonic rearrangements and frame shifts in the dystrophin gene in Duchenne muscular dystrophy patients in a Saudi community","volume":"12","author":"Elhawary","year":"2018","journal-title":"Hum. Genom."},{"key":"ref_76","doi-asserted-by":"crossref","first-page":"237","DOI":"10.1016\/j.sjbs.2010.04.008","article-title":"Deletion mutations in Duchenne muscular dystrophy (DMD) in Western Saudi children","volume":"17","author":"Tayeb","year":"2010","journal-title":"Saudi J. Biol. Sci."},{"key":"ref_77","doi-asserted-by":"crossref","unstructured":"Mohammed, F., Elshafey, A., Al-Balool, H., Alaboud, H., Al Ben Ali, M., Baqer, A., and Bastaki, L. (2018). Mutation spectrum analysis of Duchenne\/Becker muscular dystrophy in 68 families in Kuwait: The era of personalized medicine. PLoS ONE, 13.","DOI":"10.1371\/journal.pone.0197205"},{"key":"ref_78","doi-asserted-by":"crossref","unstructured":"Kong, X., Zhong, X., Liu, L., Cui, S., Yang, Y., and Kong, L. (2019). Genetic analysis of 1051 Chinese families with Duchenne\/Becker Muscular Dystrophy. BMC Med. Genet., 20.","DOI":"10.1186\/s12881-019-0873-0"},{"key":"ref_79","doi-asserted-by":"crossref","first-page":"1079","DOI":"10.1097\/00029330-200607010-00004","article-title":"A different spectrum of DMD gene mutations in local Chinese patients with Duchenne\/Becker muscular dystrophy","volume":"119","author":"Lo","year":"2006","journal-title":"Chin. Med. J."},{"key":"ref_80","doi-asserted-by":"crossref","first-page":"435","DOI":"10.1038\/jhg.2015.43","article-title":"DMD mutation spectrum analysis in 613 Chinese patients with dystrophinopathy","volume":"60","author":"Guo","year":"2015","journal-title":"J. Hum. Genet."},{"key":"ref_81","doi-asserted-by":"crossref","first-page":"114","DOI":"10.3389\/fgene.2019.00114","article-title":"Genotypes and Phenotypes of DMD Small Mutations in Chinese Patients with Dystrophinopathies","volume":"10","author":"Wang","year":"2019","journal-title":"Front. Genet."},{"key":"ref_82","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_83","doi-asserted-by":"crossref","first-page":"99","DOI":"10.1177\/0300060515613223","article-title":"Distribution of dystrophin gene deletions in a Chinese population","volume":"44","author":"Li","year":"2016","journal-title":"J. Int. Med. Res."},{"key":"ref_84","doi-asserted-by":"crossref","first-page":"5","DOI":"10.1186\/s13023-014-0220-7","article-title":"A comprehensive database of Duchenne and Becker muscular dystrophy patients (0\u201318 years old) in East China","volume":"10","author":"Li","year":"2015","journal-title":"Orphanet J. Rare Dis."},{"key":"ref_85","doi-asserted-by":"crossref","first-page":"753","DOI":"10.1631\/jzus.B1800541","article-title":"Comprehensive genetic diagnosis of patients with Duchenne\/Becker muscular dystrophy (DMD\/BMD) and pathogenicity analysis of splice site variants in the DMD gene","volume":"20","author":"Yang","year":"2019","journal-title":"J. Zhejiang Univ. B"},{"key":"ref_86","doi-asserted-by":"crossref","unstructured":"Yun, U., Lee, S.-A., Choi, W.A., Kang, S.-W., Seo, G.H., Lee, J.H., Park, G., Lee, S., Choi, Y.-C., and Park, H.J. (2021). Clinical and genetic spectra in patients with dystrophinopathy in Korea: A single-center study. PLoS ONE, 16.","DOI":"10.1371\/journal.pone.0255011"},{"key":"ref_87","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_88","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_89","doi-asserted-by":"crossref","first-page":"149","DOI":"10.1186\/s13023-017-0703-4","article-title":"Comprehensive analysis for genetic diagnosis of Dystrophinopathies in Japan","volume":"12","author":"Okubo","year":"2017","journal-title":"Orphanet J. Rare Dis."},{"key":"ref_90","doi-asserted-by":"crossref","unstructured":"Zamani, G., Hosseinpour, S., Ashrafi, M.R., Mohammadi, M., Badv, R.S., Tavasoli, A.R., Akbari, M.G., Bereshneh, A.H., Malamiri, R.A., and Heidari, M. (2022). Characteristics of disease progression and genetic correlation in ambulatory Iranian boys with Duchenne muscular dystrophy. BMC Neurol., 22.","DOI":"10.1186\/s12883-022-02687-1"},{"key":"ref_91","doi-asserted-by":"crossref","first-page":"230","DOI":"10.1002\/ajmg.c.31704","article-title":"Mutational spectrum of dystrophinopathies in Singapore: Insights for genetic diagnosis and precision therapy","volume":"181","author":"Tomar","year":"2019","journal-title":"Am. J. Med. Genet. Part C Semin. Med. Genet."},{"key":"ref_92","doi-asserted-by":"crossref","first-page":"11","DOI":"10.3109\/01677063.2012.762580","article-title":"Mutation Spectrum ofDystrophinGene in Malaysian Patients with Duchenne\/Becker Muscular Dystrophy","volume":"27","author":"Rani","year":"2013","journal-title":"J. Neurogenet."},{"key":"ref_93","doi-asserted-by":"crossref","first-page":"303","DOI":"10.4103\/0972-2327.138508","article-title":"Duchenne\/Becker muscular dystrophy: A report on clinical, biochemical, and genetic study in Gujarat population, India","volume":"17","author":"Rao","year":"2014","journal-title":"Ann. Indian Acad. Neurol."},{"key":"ref_94","doi-asserted-by":"crossref","first-page":"495","DOI":"10.1007\/s12098-020-03286-z","article-title":"Mutation Spectrum of Dystrophinopathies in India: Implications for Therapy","volume":"87","author":"Kohli","year":"2020","journal-title":"Indian J. Pediatr."},{"key":"ref_95","doi-asserted-by":"crossref","first-page":"2177","DOI":"10.1007\/s00415-019-09380-3","article-title":"Mutation pattern in 606 Duchenne muscular dystrophy children with a comparison between familial and non-familial forms: A study in an Indian large single-center cohort","volume":"266","author":"Polavarapu","year":"2019","journal-title":"J. Neurol."},{"key":"ref_96","doi-asserted-by":"crossref","first-page":"58","DOI":"10.4103\/0028-3886.152635","article-title":"A comparative study of mPCR, MLPA, and muscle biopsy results in a cohort of children with Duchenne muscular dystrophy: A first study","volume":"63","author":"Manjunath","year":"2015","journal-title":"Neurol. India"},{"key":"ref_97","doi-asserted-by":"crossref","first-page":"91","DOI":"10.3988\/jcn.2017.13.1.91","article-title":"Duchenne Muscular Dystrophy and Becker Muscular Dystrophy Confirmed by Multiplex Ligation-Dependent Probe Amplification: Genotype-Phenotype Correlation in a Large Cohort","volume":"13","author":"Vengalil","year":"2017","journal-title":"J. Clin. Neurol."},{"key":"ref_98","doi-asserted-by":"crossref","unstructured":"Kumar, S.H., Athimoolam, K., Suraj, M., Das ChristuDas, M.S., Muralidharan, A., Jeyam, D., Ashokan, J., Karthikeyan, P., Krishna, R., and Khanna-Gupta, A. (2020). Comprehensive genetic analysis of 961 unrelated Duchenne Muscular Dystrophy patients: Focus on diagnosis, prevention and therapeutic possibilities. PLoS ONE, 15.","DOI":"10.1371\/journal.pone.0232654"},{"key":"ref_99","doi-asserted-by":"crossref","first-page":"556","DOI":"10.1007\/s13312-019-1553-z","article-title":"Molecular and Histopathological Characterization of Patients Presenting with the Duchenne Muscular Dystrophy Phenotype in a Tertiary Care Center in Southern India","volume":"56","author":"Tallapaka","year":"2019","journal-title":"Indian Pediatr."},{"key":"ref_100","doi-asserted-by":"crossref","first-page":"714","DOI":"10.4103\/0028-3886.263235","article-title":"The spectrum of deletions and duplications in the dystrophin (DMD) gene in a cohort of patients with Duchenne muscular dystrophy in Sri Lanka","volume":"67","author":"Thakur","year":"2019","journal-title":"Neurol. India"},{"key":"ref_101","doi-asserted-by":"crossref","first-page":"141","DOI":"10.1016\/S1016-8478(23)24500-8","article-title":"Frameshift deletion mechanisms in Egyptian Duchenne and Becker muscular dystrophy families","volume":"18","author":"Elhawary","year":"2004","journal-title":"Mol. Cells"},{"key":"ref_102","first-page":"145","article-title":"Patterns of dystrophin gene deletion in Egyptian Duchenne\/Becker muscular dystrophy patients","volume":"26","author":"Fahmy","year":"2007","journal-title":"Acta Myol."},{"key":"ref_103","doi-asserted-by":"crossref","first-page":"125","DOI":"10.1155\/2000\/437372","article-title":"Screening of Dystrophin Gene Deletions in Egyptian Patients with DMD\/BMD Muscular Dystrophies","volume":"16","author":"Effat","year":"2000","journal-title":"Dis. Markers"},{"key":"ref_104","first-page":"158","article-title":"Analysis of Dystrophin Gene Deletions by Multiplex PCR in Moroccan Patients","volume":"2","author":"Sbiti","year":"2002","journal-title":"J. Biomed. Biotechnol."},{"key":"ref_105","first-page":"494","article-title":"Duchenne and Becker muscular dystrophy prevalence in South Africa and molecular findings in 128 persons affected","volume":"84Pt 1","author":"Ballo","year":"1994","journal-title":"S.Afr. Med. J."},{"key":"ref_106","doi-asserted-by":"crossref","first-page":"999","DOI":"10.7196\/SAMJ.7274","article-title":"Genetic testing for Duchenne\/Becker muscular dystrophy in Johannesburg, South Africa","volume":"103","author":"Kerr","year":"2013","journal-title":"S.Afr. Med. J."},{"key":"ref_107","doi-asserted-by":"crossref","first-page":"482","DOI":"10.1016\/j.nmd.2014.03.008","article-title":"A systematic review and meta-analysis on the epidemiology of Duchenne and Becker muscular dystrophy","volume":"24","author":"Mah","year":"2014","journal-title":"Neuromuscul. Disord."},{"key":"ref_108","doi-asserted-by":"crossref","first-page":"855","DOI":"10.1007\/s00246-021-02797-6","article-title":"Diversity of Dystrophin Gene Mutations and Disease Progression in a Contemporary Cohort of Duchenne Muscular Dystrophy","volume":"43","author":"Gambetta","year":"2022","journal-title":"Pediatr. Cardiol."},{"key":"ref_109","doi-asserted-by":"crossref","first-page":"295","DOI":"10.1002\/ajmg.a.30617","article-title":"Improved molecular diagnosis of dystrophinopathies in an unselected clinical cohort","volume":"134","author":"Dent","year":"2005","journal-title":"Am. J. Med. Genet. Part A"},{"key":"ref_110","doi-asserted-by":"crossref","first-page":"22","DOI":"10.1016\/j.jns.2016.03.047","article-title":"MLPA analysis of an Argentine cohort of patients with dystrophinopathy: Association of intron breakpoints hot spots with STR abundance in DMD gene","volume":"365","author":"Luce","year":"2016","journal-title":"J. Neurol. Sci."},{"key":"ref_111","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_112","doi-asserted-by":"crossref","first-page":"261","DOI":"10.3233\/JND-160147","article-title":"Prevalence and Genetic Profile of Duchene and Becker Muscular Dystrophy in Puerto Rico","volume":"3","author":"Ramos","year":"2016","journal-title":"J. Neuromuscul. Dis."},{"key":"ref_113","doi-asserted-by":"crossref","first-page":"1197","DOI":"10.1007\/s00439-020-02199-3","article-title":"The Human Gene Mutation Database (HGMD\u00ae): Optimizing its use in a clinical diagnostic or research setting","volume":"139","author":"Stenson","year":"2020","journal-title":"Hum. Genet."},{"key":"ref_114","first-page":"121","article-title":"Improvement of survival in Duchenne Muscular Dystrophy: Retrospective analysis of 835 patients","volume":"31","author":"Passamano","year":"2012","journal-title":"Acta Myol."}],"container-title":["Genes"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.mdpi.com\/2073-4425\/14\/1\/214\/pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,10]],"date-time":"2025-10-10T18:05:55Z","timestamp":1760119555000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.mdpi.com\/2073-4425\/14\/1\/214"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2023,1,14]]},"references-count":114,"journal-issue":{"issue":"1","published-online":{"date-parts":[[2023,1]]}},"alternative-id":["genes14010214"],"URL":"https:\/\/doi.org\/10.3390\/genes14010214","relation":{},"ISSN":["2073-4425"],"issn-type":[{"value":"2073-4425","type":"electronic"}],"subject":[],"published":{"date-parts":[[2023,1,14]]}}}