{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,26]],"date-time":"2026-09-26T15:39:29Z","timestamp":1790437169750,"version":"4.1.0"},"reference-count":80,"publisher":"MDPI AG","issue":"3","license":[{"start":{"date-parts":[[2020,9,3]],"date-time":"2020-09-03T00:00:00Z","timestamp":1599091200000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["JPM"],"abstract":"<jats:p>Currently, Duchenne muscular dystrophy (DMD) and the related condition Becker muscular dystrophy (BMD) can be usually diagnosed using physical examination and genetic testing. While BMD features partially functional dystrophin protein due to in-frame mutations, DMD largely features no dystrophin production because of out-of-frame mutations. However, BMD can feature a range of phenotypes from mild to borderline DMD, indicating a complex genotype\u2013phenotype relationship. Despite two mutational hot spots in dystrophin, mutations can arise across the gene. The use of multiplex ligation amplification (MLPA) can easily assess the copy number of all exons, while next-generation sequencing (NGS) can uncover novel or confirm hard-to-detect mutations. Exon-skipping therapy, which targets specific regions of the dystrophin gene based on a patient\u2019s mutation, is an especially prominent example of personalized medicine for DMD. To maximize the benefit of exon-skipping therapies, accurate genetic diagnosis and characterization including genotype\u2013phenotype correlation studies are becoming increasingly important. In this article, we present the recent progress in the collection of mutational data and optimization of exon-skipping therapy for DMD\/BMD.<\/jats:p>","DOI":"10.3390\/jpm10030111","type":"journal-article","created":{"date-parts":[[2020,9,3]],"date-time":"2020-09-03T08:40:26Z","timestamp":1599122426000},"page":"111","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":30,"title":["Advances in Genetic Characterization and Genotype\u2013Phenotype Correlation of Duchenne and Becker Muscular Dystrophy in the Personalized Medicine Era"],"prefix":"10.3390","volume":"10","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-1291-497X","authenticated-orcid":false,"given":"Omar","family":"Sheikh","sequence":"first","affiliation":[{"name":"Department of Medical Genetics, University of Alberta Faculty of Medicine and Dentistry, Edmonton, AB T6G 2H7, Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Toshifumi","family":"Yokota","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics, University of Alberta Faculty of Medicine and Dentistry, Edmonton, AB T6G 2H7, Canada"},{"name":"The Friends of Garrett Cumming Research &amp; Muscular Dystrophy Canada HM Toupin Neurological Science Research Chair, Edmonton, AB T6G 2H7, Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2020,9,3]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"1049","DOI":"10.1038\/ejhg.2012.301","article-title":"Newborn bloodspot screening for Duchenne Muscular Dystrophy: 21 years experience in Wales (UK)","volume":"21","author":"Moat","year":"2013","journal-title":"Eur. J. Hum. Genet."},{"key":"ref_2","doi-asserted-by":"crossref","first-page":"541","DOI":"10.1136\/bmj.2.363.541","article-title":"The Pathology of paralysis with muscular degeneration (paralysie myosclerotique), or paralysis with apparent hypertrophy","volume":"2","author":"Duchenne","year":"1867","journal-title":"Br. Med. J."},{"key":"ref_3","doi-asserted-by":"crossref","first-page":"539","DOI":"10.1007\/BF01799613","article-title":"Duchenne muscular dystrophy: Gene and gene product; mechanism of mutation in the gene","volume":"15","author":"Worton","year":"1992","journal-title":"J. Inherit. Metab. Dis."},{"key":"ref_4","doi-asserted-by":"crossref","first-page":"240","DOI":"10.1177\/088307388900400402","article-title":"The Duchenne Dystrophy Story: From Phenotype to Gene and Potential Treatment","volume":"4","author":"Dubowitz","year":"1989","journal-title":"J. Child Neurol."},{"key":"ref_5","first-page":"919","article-title":"Dystrophin: The protein product of the Duchene muscular dystrophy locus. 1987","volume":"51","author":"Hoffman","year":"1987","journal-title":"Biotechnology"},{"key":"ref_6","first-page":"498","article-title":"The molecular basis for duchenne versus becker muscular dystrophy: Correlation of severity with type of deletion","volume":"45","author":"Koenig","year":"1989","journal-title":"Am. J. Hum. Genet."},{"key":"ref_7","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_8","doi-asserted-by":"crossref","first-page":"668","DOI":"10.1002\/ana.24365","article-title":"Clinical phenotypes as predictors of the outcome of skipping around DMD exon 45","volume":"4","author":"Findlay","year":"2015","journal-title":"Ann. Neurol."},{"key":"ref_9","doi-asserted-by":"crossref","first-page":"871","DOI":"10.1038\/jhg.2017.57","article-title":"Moving towards successful exon-skipping therapy for Duchenne muscular dystrophy","volume":"62","author":"Nakamura","year":"2017","journal-title":"J. Hum. Genet."},{"key":"ref_10","first-page":"1","article-title":"Overview of Next Generation Sequencing technologies (and bioinformatics) in cancer","volume":"122","author":"Slatko","year":"2018","journal-title":"Mol. Biol."},{"key":"ref_11","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_12","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_13","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_14","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_15","doi-asserted-by":"crossref","first-page":"229","DOI":"10.1089\/gte.2006.10.229","article-title":"Strategy for Comprehensive Molecular Testing for Duchenne and Becker Muscular Dystrophies","volume":"10","author":"Stockley","year":"2006","journal-title":"Genet. Test."},{"key":"ref_16","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_17","doi-asserted-by":"crossref","first-page":"5463","DOI":"10.1073\/pnas.74.12.5463","article-title":"DNA sequencing with chain-terminating inhibitors","volume":"74","author":"Sanger","year":"1977","journal-title":"Proc. Natl. Acad. Sci. USA"},{"key":"ref_18","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_19","doi-asserted-by":"crossref","first-page":"369","DOI":"10.1136\/jmg.25.6.369","article-title":"Partial gene duplication in Duchenne and Becker muscular dystrophies","volume":"25","author":"Hu","year":"1988","journal-title":"J. Med. Genet."},{"key":"ref_20","first-page":"507","article-title":"Molecular and phenotypic analysis of patients with deletions within the deletion-rich region of the Duchenne muscular dystrophy (DMD) gene","volume":"45","author":"Gillard","year":"1989","journal-title":"Am. J. Hum. Genet."},{"key":"ref_21","doi-asserted-by":"crossref","first-page":"897","DOI":"10.1136\/jmg.29.12.897","article-title":"Quantitative Southern blot analysis in the dystrophin gene of Japanese patients with Duchenne or Becker muscular dystrophy: A high frequency of duplications","volume":"29","author":"Hiraishi","year":"1992","journal-title":"J. Med. Genet."},{"key":"ref_22","doi-asserted-by":"crossref","first-page":"e57","DOI":"10.1093\/nar\/gnf056","article-title":"Relative quantification of 40 nucleic acid sequences by multiplex ligation-dependent probe amplification","volume":"30","author":"Schouten","year":"2002","journal-title":"Nucleic Acids Res."},{"key":"ref_23","doi-asserted-by":"crossref","first-page":"531","DOI":"10.1080\/14737159.2018.1479253","article-title":"Novel applications of array comparative genomic hybridization in molecular diagnostics","volume":"18","author":"Cheung","year":"2018","journal-title":"Expert Rev. Mol. Diagn."},{"key":"ref_24","doi-asserted-by":"crossref","first-page":"750","DOI":"10.1086\/429588","article-title":"Exon array CGH: Detection of copy-number changes at the resolution of individual exons in the human genome","volume":"76","author":"Dhami","year":"2005","journal-title":"Am. J. Hum. Genet."},{"key":"ref_25","doi-asserted-by":"crossref","first-page":"1100","DOI":"10.1002\/humu.20841","article-title":"Molecular diagnosis of Duchenne\/Becker muscular dystrophy: Enhanced detection of dystrophin gene rearrangements by oligonucleotide array-comparative genomic hybridization","volume":"29","author":"Yang","year":"2008","journal-title":"Hum. Mutat."},{"key":"ref_26","doi-asserted-by":"crossref","first-page":"1083","DOI":"10.1002\/humu.20829","article-title":"Detection of exonic copy-number changes using a highly efficient oligonucleotide-based comparative genomic hybridization-array method","volume":"29","author":"Saillour","year":"2008","journal-title":"Hum. Mutat."},{"key":"ref_27","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1186\/1471-2164-9-572","article-title":"A novel custom high density-comparative genomic hybridization array detects common rearrangements as well as deep intronic mutations in dystrophinopathies","volume":"9","author":"Bovolenta","year":"2008","journal-title":"BMC Genom."},{"key":"ref_28","doi-asserted-by":"crossref","first-page":"539","DOI":"10.1002\/mgg3.108","article-title":"Complex genomic rearrangements in the dystrophin gene due to replication-based mechanisms","volume":"2","author":"Baskin","year":"2014","journal-title":"Mol. Genet. Genom. Med."},{"key":"ref_29","doi-asserted-by":"crossref","first-page":"1096","DOI":"10.1038\/ejhg.2012.51","article-title":"Comprehensive oligonucleotide array-comparative genomic hybridization analysis: New insights into the molecular pathology of the DMD gene","volume":"20","author":"Ishmukhametova","year":"2012","journal-title":"Eur. J. Hum. Genet."},{"key":"ref_30","doi-asserted-by":"crossref","first-page":"411","DOI":"10.1007\/s00439-009-0679-9","article-title":"Regional genomic instability predisposes to complex dystrophin gene rearrangements","volume":"126","author":"Oshima","year":"2009","journal-title":"Hum. Genet."},{"key":"ref_31","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_32","doi-asserted-by":"crossref","first-page":"1534","DOI":"10.1177\/0883073816664836","article-title":"Utility of Whole Exome Sequencing for Genetic Diagnosis of Previously Undiagnosed Pediatric Neurology Patients","volume":"31","author":"Kuperberg","year":"2016","journal-title":"J. Child Neurol."},{"key":"ref_33","doi-asserted-by":"crossref","first-page":"986","DOI":"10.1016\/j.nmd.2018.08.012","article-title":"Small mutation screening in the DMD gene by whole exome sequencing of an argentine Duchenne\/Becker muscular dystrophies cohort","volume":"28","author":"Luce","year":"2018","journal-title":"Neuromuscul. Disord."},{"key":"ref_34","first-page":"1","article-title":"Application whole exome sequencing for the clinical molecular diagnosis of patients with Duchenne muscular dystrophy; identification of four novel nonsense mutations in four unrelated Chinese DMD patients","volume":"7","author":"Zhang","year":"2019","journal-title":"Mol. Genet. Genom. Med."},{"key":"ref_35","doi-asserted-by":"crossref","first-page":"243","DOI":"10.1038\/jhg.2016.116","article-title":"The sensitivity of exome sequencing in identifying pathogenic mutations for LGMD in the United States","volume":"62","author":"Reddy","year":"2017","journal-title":"J. Hum. Genet."},{"key":"ref_36","doi-asserted-by":"crossref","first-page":"982","DOI":"10.1016\/j.tips.2018.09.001","article-title":"Precision Medicine through Antisense Oligonucleotide-Mediated Exon Skipping","volume":"39","author":"Li","year":"2018","journal-title":"Trends Pharmacol. Sci."},{"key":"ref_37","doi-asserted-by":"crossref","first-page":"1193","DOI":"10.1002\/humu.23561","article-title":"DMD genotype correlations from the Duchenne Registry: Endogenous exon skipping is a factor in prolonged ambulation for individuals with a defined mutation subtype","volume":"39","author":"Wang","year":"2018","journal-title":"Hum. Mutat."},{"key":"ref_38","doi-asserted-by":"crossref","unstructured":"Hoffman, E.P. (2019). Pharmacotherapy of Duchenne Muscular Dystrophy, Springer-Natur Switzerland AG.","DOI":"10.1007\/164_2019_256"},{"key":"ref_39","doi-asserted-by":"crossref","first-page":"13","DOI":"10.1089\/nat.2018.0756","article-title":"A Sequel to the Eteplirsen Saga: Eteplirsen Is Approved in the United States but Was Not Approved in Europe","volume":"29","author":"Goemans","year":"2019","journal-title":"Nucleic Acid Ther."},{"key":"ref_40","unstructured":"Sarepta Therapeutics Inc. (2019). Sarepta Therapeutics Announces FDA Approval of VYONDYS 53 (golodirsen) Injection for the Treatment of Duchenne Muscular Dystrophy (DMD) in Patients Amenable to Skipping Exon 53, Sarepta Therapeutics, Inc."},{"key":"ref_41","doi-asserted-by":"crossref","first-page":"1027","DOI":"10.1007\/s40265-020-01339-3","article-title":"Viltolarsen: First Approval","volume":"80","author":"Dhillon","year":"2020","journal-title":"Drugs"},{"key":"ref_42","unstructured":"FDA (2020, August 29). FDA Approves Targeted Treatment for Rare Duchenne Muscular Dystrophy Mutation, Available online: https:\/\/www.fda.gov\/news-events\/press-announcements\/fda-approves-targeted-treatment-rare-duchenne-muscular-dystrophy-mutation."},{"key":"ref_43","first-page":"1","article-title":"Safety, Tolerability, and Efficacy of Viltolarsen in Boys with Duchenne Muscular Dystrophy Amenable to Exon 53 Skipping: A Phase 2 Randomized Clinical Trial","volume":"15261","author":"Clemens","year":"2020","journal-title":"JAMA Neurol."},{"key":"ref_44","doi-asserted-by":"crossref","first-page":"e2135","DOI":"10.1212\/WNL.0000000000005680","article-title":"Eteplirsen treatment for Duchenne muscular dystrophy","volume":"90","author":"Charleston","year":"2018","journal-title":"Neurology"},{"key":"ref_45","doi-asserted-by":"crossref","first-page":"257","DOI":"10.1002\/ana.24555","article-title":"Longitudinal effect of eteplirsen versus historical control on ambulation in Duchenne muscular dystrophy","volume":"79","author":"Mendell","year":"2016","journal-title":"Ann. Neurol."},{"key":"ref_46","doi-asserted-by":"crossref","first-page":"e2270","DOI":"10.1212\/WNL.0000000000009233","article-title":"Increased dystrophin production with golodirsen in patients with Duchenne muscular dystrophy","volume":"94","author":"Frank","year":"2020","journal-title":"Neurology"},{"key":"ref_47","doi-asserted-by":"crossref","first-page":"2061","DOI":"10.1021\/acs.biochem.9b00062","article-title":"Empirical and Computational Comparison of Alternative Therapeutic Exon Skip Repairs for Duchenne Muscular Dystrophy","volume":"58","author":"Ma","year":"2019","journal-title":"Biochemistry"},{"key":"ref_48","doi-asserted-by":"crossref","first-page":"1141","DOI":"10.1517\/14712598.2012.693469","article-title":"Exon skipping for nonsense mutations in Duchenne muscular dystrophy: Too many mutations, too few patients?","volume":"12","author":"Yokota","year":"2012","journal-title":"Expert Opin. Biol. Ther."},{"key":"ref_49","doi-asserted-by":"crossref","first-page":"667","DOI":"10.1002\/ana.21627","article-title":"Efficacy of systemic morpholino exon-skipping in duchenne dystrophy dogs","volume":"65","author":"Yokota","year":"2009","journal-title":"Ann. Neurol."},{"key":"ref_50","doi-asserted-by":"crossref","unstructured":"Echigoya, Y., Lim, K.R.Q., Nakamura, A., and Yokota, T. (2018). Multiple exon skipping in the duchenne muscular dystrophy hot spots: Prospects and challenges. J. Pers. Med., 8.","DOI":"10.3390\/jpm8040041"},{"key":"ref_51","doi-asserted-by":"crossref","first-page":"459","DOI":"10.1038\/jhg.2016.152","article-title":"Comparison of the phenotypes of patients harboring in-frame deletions starting at exon 45 in the Duchenne muscular dystrophy gene indicates potential for the development of exon skipping therapy","volume":"62","author":"Nakamura","year":"2017","journal-title":"J. Hum. Genet."},{"key":"ref_52","doi-asserted-by":"crossref","first-page":"13763","DOI":"10.1073\/pnas.1204638109","article-title":"Bodywide skipping of exons 45\u201355 in dystrophic mdx52 mice by systemic antisense delivery","volume":"109","author":"Aoki","year":"2012","journal-title":"Proc. Natl. Acad. Sci. USA"},{"key":"ref_53","doi-asserted-by":"crossref","first-page":"465","DOI":"10.1212\/WNL.39.4.465","article-title":"Molecular and clinical correlations of deletions leading to Duchenne and Becker muscular dystrophy","volume":"39","author":"Baumbach","year":"1989","journal-title":"Neurology"},{"key":"ref_54","doi-asserted-by":"crossref","first-page":"934","DOI":"10.1002\/humu.20976","article-title":"Genotype-phenotype analysis in 2405 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_55","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_56","doi-asserted-by":"crossref","first-page":"395","DOI":"10.1002\/humu.22758","article-title":"The TREAT-NMD DMD global database: Analysis of more than 7000 duchenne muscular dystrophy mutations","volume":"36","author":"Bladen","year":"2015","journal-title":"Hum. Mutat."},{"key":"ref_57","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1186\/s12881-019-0873-0","article-title":"Genetic analysis of 1051 Chinese families with Duchenne\/Becker Muscular Dystrophy","volume":"20","author":"Kong","year":"2019","journal-title":"BMC Med. Genet."},{"key":"ref_58","doi-asserted-by":"crossref","first-page":"1","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_59","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_60","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. Pedatrics"},{"key":"ref_61","doi-asserted-by":"crossref","first-page":"468","DOI":"10.1089\/gtmb.2018.0262","article-title":"MLPA Analyses Reveal a Spectrum of Dystrophin Gene Deletions\/Duplications in Pakistani Patients Suspected of Having Duchenne\/Becker Muscular Dystrophy: A Retrospective Study","volume":"23","author":"Ansar","year":"2019","journal-title":"Genet. Test. Mol. Biomark."},{"key":"ref_62","doi-asserted-by":"crossref","first-page":"170","DOI":"10.3109\/01677063.2013.830616","article-title":"Exon deletion patterns of the dystrophin gene in 82 Vietnamese Duchenne\/Becker muscular dystrophy patients","volume":"27","author":"Tran","year":"2013","journal-title":"J. Neurogenet."},{"key":"ref_63","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_64","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_65","doi-asserted-by":"crossref","first-page":"667","DOI":"10.1016\/j.nmd.2008.06.369","article-title":"MLPA analysis\/complete sequencing of the DMD gene in a group of Bulgarian Duchenne\/Becker muscular dystrophy patients","volume":"18","author":"Todorova","year":"2008","journal-title":"Neuromuscul. Disord."},{"key":"ref_66","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1016\/j.gene.2017.12.009","article-title":"Next Generation Sequencing approach to molecular diagnosis of Duchenne muscular dystrophy; identification of a novel mutation","volume":"644","author":"Teymoori","year":"2018","journal-title":"Gene"},{"key":"ref_67","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1186\/s13104-019-4730-1","article-title":"The analysis of DMD gene deletions by multiplex PCR in Indonesian DMD\/BMD patients: The era of personalized medicine","volume":"12","author":"Iskandar","year":"2019","journal-title":"BMC Res. Notes"},{"key":"ref_68","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1186\/1750-1172-8-60","article-title":"Characteristics of Japanese Duchenne and Becker muscular dystrophy patients in a novel Japanese national registry of muscular dystrophy (Remudy)","volume":"8","author":"Nakamura","year":"2013","journal-title":"Orphanet J. Rare Dis."},{"key":"ref_69","doi-asserted-by":"crossref","first-page":"193","DOI":"10.3233\/JND-170225","article-title":"Characteristics of Japanese patients with becker muscular dystrophy and intermediate muscular dystrophy in a Japanese national registry of muscular dystrophy (Remudy): Heterogeneity and clinical variation","volume":"5","author":"Mitsuhashi","year":"2018","journal-title":"J. Neuromuscul. Dis."},{"key":"ref_70","doi-asserted-by":"crossref","first-page":"1","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_71","first-page":"179","article-title":"Optimizing exon skipping therapies for DMD","volume":"26","author":"Yokota","year":"2007","journal-title":"Acta Myol."},{"key":"ref_72","doi-asserted-by":"crossref","first-page":"843","DOI":"10.1136\/jmg.31.11.843","article-title":"Deletions in the 5\u2019 region of dystrophin and resulting phenotypes","volume":"31","author":"Muntoni","year":"1994","journal-title":"J. Med. Genet."},{"key":"ref_73","doi-asserted-by":"crossref","unstructured":"Toh, Z.Y.C., Aung-Htut, M.T., Pinniger, G., Adams, A.M., Krishnaswarmy, S., Wong, B.L., Fletcher, S., and Wilton, S.D. (2016). Deletion of dystrophin in-frame exon 5 leads to a severe phenotype: Guidance for exon skipping strategies. PLoS ONE, 11.","DOI":"10.1371\/journal.pone.0145620"},{"key":"ref_74","doi-asserted-by":"crossref","first-page":"663","DOI":"10.1038\/jhg.2016.28","article-title":"Deletion of exons 3-9 encompassing a mutational hot spot in the DMD gene presents an asymptomatic phenotype, indicating a target region for multiexon skipping therapy","volume":"61","author":"Nakamura","year":"2016","journal-title":"J. Hum. Genet."},{"key":"ref_75","doi-asserted-by":"crossref","first-page":"2388","DOI":"10.1212\/WNL.44.12.2388","article-title":"Becker muscular dystrophy with onset after 60 years","volume":"44","author":"Heald","year":"1994","journal-title":"Neurology"},{"key":"ref_76","doi-asserted-by":"crossref","first-page":"76","DOI":"10.1016\/j.ymthe.2018.10.011","article-title":"Efficacy of Multi-exon Skipping Treatment in Duchenne Muscular Dystrophy Dog Model Neonates","volume":"27","author":"Lim","year":"2019","journal-title":"Mol. Ther."},{"key":"ref_77","doi-asserted-by":"crossref","first-page":"217","DOI":"10.3233\/JND-200483","article-title":"Clinical Phenotypes of DMD Exon 51 Skip Equivalent Deletions: A Systematic Review","volume":"7","author":"Waldrop","year":"2020","journal-title":"J. Neuromuscul. Dis."},{"key":"ref_78","first-page":"757","article-title":"Follow-up of three patients with a large in-frame deletion of exons 45\u201355 in the Duchenne muscular dystrophy (DMD) gene","volume":"15","author":"Nakamura","year":"2008","journal-title":"J. Clin. Neurosci. Off. J. Neurosurg. Soc. Australas."},{"key":"ref_79","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_80","doi-asserted-by":"crossref","first-page":"2005","DOI":"10.1016\/j.ymthe.2019.07.012","article-title":"Exons 45\u201355 Skipping Using Mutation-Tailored Cocktails of Antisense Morpholinos in the DMD Gene","volume":"27","author":"Echigoya","year":"2019","journal-title":"Mol. Ther."}],"container-title":["Journal of Personalized Medicine"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.mdpi.com\/2075-4426\/10\/3\/111\/pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,11]],"date-time":"2025-10-11T10:06:10Z","timestamp":1760177170000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.mdpi.com\/2075-4426\/10\/3\/111"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2020,9,3]]},"references-count":80,"journal-issue":{"issue":"3","published-online":{"date-parts":[[2020,9]]}},"alternative-id":["jpm10030111"],"URL":"https:\/\/doi.org\/10.3390\/jpm10030111","relation":{},"ISSN":["2075-4426"],"issn-type":[{"value":"2075-4426","type":"electronic"}],"subject":[],"published":{"date-parts":[[2020,9,3]]}}}