{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,11,19]],"date-time":"2025-11-19T07:02:40Z","timestamp":1763535760842,"version":"3.41.2"},"reference-count":53,"publisher":"Frontiers Media SA","license":[{"start":{"date-parts":[[2020,9,30]],"date-time":"2020-09-30T00:00:00Z","timestamp":1601424000000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100005150","name":"Chinese Academy of Medical Sciences","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100005150","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["frontiersin.org"],"crossmark-restriction":true},"short-container-title":["Front. Neurol."],"DOI":"10.3389\/fneur.2020.572006","type":"journal-article","created":{"date-parts":[[2020,9,30]],"date-time":"2020-09-30T06:18:08Z","timestamp":1601446688000},"update-policy":"https:\/\/doi.org\/10.3389\/crossmark-policy","source":"Crossref","is-referenced-by-count":14,"title":["A Comprehensive Analysis of 2013 Dystrophinopathies in China: A Report From National Rare Disease Center"],"prefix":"10.3389","volume":"11","author":[{"given":"Yuan-Ren","family":"Tong","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Chang","family":"Geng","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yu-Zhou","family":"Guan","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yan-Huan","family":"Zhao","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hai-Tao","family":"Ren","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Feng-Xia","family":"Yao","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Chao","family":"Ling","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Dan-Chen","family":"Wang","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Lin","family":"Chen","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Li-Ying","family":"Cui","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Shu-Yang","family":"Zhang","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yi","family":"Dai","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"1965","published-online":{"date-parts":[[2020,9,30]]},"reference":[{"key":"B1","doi-asserted-by":"publisher","first-page":"434","DOI":"10.1038\/328434a0","article-title":"A cDNA clone from the duchenne\/becker muscular dystrophy gene","volume":"328","author":"Burghes","year":"1987","journal-title":"Nature."},{"key":"B2","doi-asserted-by":"publisher","first-page":"4778","DOI":"10.1073\/pnas.82.14.4778","article-title":"Specific cloning of DNA fragments absent from the DNA of a male patient with an X chromosome deletion","volume":"82","author":"Kunkel","year":"1985","journal-title":"Proc Natl Acad Sci USA."},{"key":"B3","doi-asserted-by":"publisher","first-page":"304","DOI":"10.1002\/ana.23528","article-title":"Evidence-based path to newborn screening for duchenne muscular dystrophy","volume":"71","author":"Mendell","year":"2012","journal-title":"Ann Neurol."},{"key":"B4","doi-asserted-by":"publisher","first-page":"197","DOI":"10.1007\/s12519-017-0036-3","article-title":"Newborn screening for duchenne muscular dystrophy in China: follow-up diagnosis and subsequent treatment","volume":"13","author":"Ke","year":"2017","journal-title":"World J Pediatr."},{"key":"B5","doi-asserted-by":"publisher","first-page":"1022","DOI":"10.1016\/0140-6736(91)92671-N","article-title":"Prevalence and incidence of becker muscular dystrophy","volume":"337","author":"Bushby","year":"1991","journal-title":"Lancet."},{"key":"B6","doi-asserted-by":"publisher","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":"B7","doi-asserted-by":"publisher","first-page":"513","DOI":"10.1542\/peds.2014-2044","article-title":"Prevalence of duchenne and becker muscular dystrophies in the United States","volume":"135","author":"Romitti","year":"2015","journal-title":"Pediatrics."},{"key":"B8","doi-asserted-by":"publisher","first-page":"94","DOI":"10.1111\/j.1399-0004.1997.tb02427.x","article-title":"Genetic epidemiology of duchenne and becker muscular dystrophy in Slovenia","volume":"51","author":"Peterlin","year":"1997","journal-title":"Clin Genet."},{"key":"B9","doi-asserted-by":"publisher","first-page":"91","DOI":"10.1002\/mus.880060204","article-title":"Clinical investigation in duchenne dystrophy: 2. Determination of the \u201cpower\u201d of therapeutic trials based on the natural history","volume":"6","author":"Brooke","year":"1983","journal-title":"Muscle Nerve."},{"key":"B10","doi-asserted-by":"publisher","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":"B11","doi-asserted-by":"publisher","first-page":"3168","DOI":"10.1161\/01.CIR.94.12.3168","article-title":"Myocardial involvement is very frequent among patients affected with subclinical becker's muscular dystrophy","volume":"94","author":"Melacini","year":"1996","journal-title":"Circulation."},{"key":"B12","doi-asserted-by":"publisher","first-page":"145","DOI":"10.1159\/000008089","article-title":"Clinical characteristics of aged becker muscular dystrophy patients with onset after 30 years","volume":"42","author":"Yazaki","year":"1999","journal-title":"Eur Neurol."},{"key":"B13","doi-asserted-by":"publisher","first-page":"190","DOI":"10.1016\/0022-510X(91)90068-I","article-title":"Serum creatine-kinase (CK) and pyruvate-kinase (PK) activities in duchenne (DMD) as compared with becker (BMD) muscular dystrophy","volume":"102","author":"Zatz","year":"1991","journal-title":"J Neurol Sci."},{"key":"B14","doi-asserted-by":"publisher","first-page":"520","DOI":"10.1016\/j.cca.2011.11.016","article-title":"Value of muscle enzyme measurement in evaluating different neuromuscular diseases","volume":"413","author":"Zhang","year":"2012","journal-title":"Clin Chim Acta."},{"key":"B15","doi-asserted-by":"publisher","first-page":"173","DOI":"10.1016\/0022-510X(84)90194-1","article-title":"The diagnostic value of plasma myoglobin levels in the adult and fetus at-risk for duchenne muscular dystrophy","volume":"63","author":"Edwards","year":"1984","journal-title":"J Neurol Sci."},{"key":"B16","doi-asserted-by":"publisher","first-page":"693","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":"B17","doi-asserted-by":"publisher","first-page":"671","DOI":"10.1016\/j.ncl.2014.05.002","article-title":"Duchenne and becker muscular dystrophies","volume":"32","author":"Flanigan","year":"2014","journal-title":"Neurol Clin."},{"key":"B18","doi-asserted-by":"publisher","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":"Ame J Med Genet A."},{"key":"B19","doi-asserted-by":"publisher","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":"B20","doi-asserted-by":"publisher","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":"B21","doi-asserted-by":"publisher","first-page":"5","DOI":"10.1186\/s13023-014-0220-7","article-title":"A comprehensive database of duchenne and becker muscular dystrophy patients (0-18 years old) in East China","volume":"10","author":"Li","year":"2015","journal-title":"Orphanet J Rare Dis."},{"key":"B22","doi-asserted-by":"publisher","first-page":"715","DOI":"10.1016\/j.nmd.2017.02.010","article-title":"Clinical and mutational characteristics of duchenne muscular dystrophy patients based on a comprehensive database in South China","volume":"27","author":"Wang","year":"2017","journal-title":"Neuromuscul Disord."},{"key":"B23","doi-asserted-by":"publisher","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":"B24","doi-asserted-by":"publisher","first-page":"1449","DOI":"10.1002\/humu.22390","article-title":"The TREAT-NMD duchenne muscular dystrophy registries: conception, design, and utilization by industry and academia","volume":"34","author":"Bladen","year":"2013","journal-title":"Hum Mutat."},{"key":"B25","doi-asserted-by":"publisher","first-page":"668","DOI":"10.1002\/humu.23953","article-title":"Exonic rearrangements in DMD in Chinese han individuals affected with duchenne and becker muscular dystrophies","volume":"41","author":"Ling","year":"2020","journal-title":"Hum Mutat."},{"key":"B26","doi-asserted-by":"publisher","first-page":"277","DOI":"10.2169\/internalmedicine.33.277","article-title":"Immunostaining of dystrophin and utrophin in skeletal muscle of dystrophinopathies","volume":"33","author":"Sahashi","year":"1994","journal-title":"Intern Med."},{"key":"B27","doi-asserted-by":"publisher","first-page":"2127","DOI":"10.1172\/JCI115244","article-title":"Exon skipping during splicing of dystrophin mRNA precursor due to an intraexon deletion in the dystrophin gene of duchenne muscular dystrophy kobe","volume":"87","author":"Matsuo","year":"1991","journal-title":"J Clin Invest."},{"key":"B28","first-page":"298","article-title":"Direct detection of dystrophin gene rearrangements by analysis of dystrophin mRNA in peripheral blood lymphocytes","volume":"49","author":"Roberts","year":"1991","journal-title":"Ame J hum Genet."},{"key":"B29","doi-asserted-by":"publisher","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":"B30","doi-asserted-by":"publisher","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":"B31","doi-asserted-by":"publisher","first-page":"613","DOI":"10.3349\/ymj.2017.58.3.613","article-title":"Multiplex ligation-dependent probe amplification in X-linked recessive muscular dystrophy in korean subjects","volume":"58","author":"Suh","year":"2017","journal-title":"Yonsei Med J."},{"key":"B32","doi-asserted-by":"publisher","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":"B33","doi-asserted-by":"publisher","first-page":"207","DOI":"10.1016\/j.jpeds.2016.02.067","article-title":"Corticosteroid treatment and growth patterns in ambulatory males with duchenne muscular dystrophy","volume":"173","author":"Lamb","year":"2016","journal-title":"J Pediatr."},{"key":"B34","doi-asserted-by":"publisher","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":"Aartsma-Rus","year":"2010","journal-title":"Muscle Nerve"},{"key":"B35","doi-asserted-by":"publisher","first-page":"R57","DOI":"10.1093\/hmg\/ddh073","article-title":"Implications of human genome architecture for rearrangement-based disorders: the genomic basis of disease","volume":"1","author":"Shaw","year":"2004","journal-title":"Hum Mol Genet."},{"key":"B36","doi-asserted-by":"publisher","first-page":"439","DOI":"10.1111\/cge.13146","article-title":"Genomic disorders 20 years on-mechanisms for clinical manifestations","volume":"93","author":"Harel","year":"2018","journal-title":"Clin Genet."},{"key":"B37","doi-asserted-by":"publisher","first-page":"1516","DOI":"10.1101\/gr.091827.109","article-title":"Mobile elements create structural variation: analysis of a complete human genome","volume":"19","author":"Xing","year":"2009","journal-title":"Genome Res."},{"key":"B38","doi-asserted-by":"publisher","first-page":"451","DOI":"10.1146\/annurev.genom.9.081307.164217","article-title":"Copy number variation in human health, disease, and evolution","volume":"10","author":"Zhang","year":"2009","journal-title":"Annu Rev Genomics Hum Genet."},{"key":"B39","doi-asserted-by":"publisher","first-page":"1","DOI":"10.1074\/jbc.R700039200","article-title":"The mechanism of human nonhomologous DNA end joining","volume":"283","author":"Lieber","year":"2008","journal-title":"J Biol Chem."},{"key":"B40","doi-asserted-by":"publisher","first-page":"420","DOI":"10.1126\/science.1149504","article-title":"Paired-end mapping reveals extensive structural variation in the human genome","volume":"318","author":"Korbel","year":"2007","journal-title":"Science."},{"key":"B41","doi-asserted-by":"publisher","first-page":"4295","DOI":"10.1128\/MCB.6.12.4295","article-title":"Nonhomologous recombination in mammalian cells: role for short sequence homologies in the joining reaction","volume":"6","author":"Roth","year":"1986","journal-title":"Mol Cell Bio."},{"key":"B42","doi-asserted-by":"publisher","first-page":"29","DOI":"10.1186\/1471-2350-14-29","article-title":"MLPA-based genotype\u2013phenotype analysis in 1053. Chinese patients with DMD\/BMD","volume":"14","author":"Yang","year":"2013","journal-title":"BMC Med Genet."},{"key":"B43","doi-asserted-by":"publisher","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":"Tuffery-Giraud","year":"2009","journal-title":"Hum Mutat."},{"key":"B44","doi-asserted-by":"publisher","first-page":"631","DOI":"10.1016\/0888-7543(91)90445-K","article-title":"242 Breakpoints in the 200-kb deletion-prone P20 region of the DMD gene are widely spread","volume":"10","author":"Blonden","year":"1991","journal-title":"Genomics"},{"key":"B45","doi-asserted-by":"publisher","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":"B46","doi-asserted-by":"publisher","first-page":"1319","DOI":"10.1038\/ng.2768","article-title":"Replicative mechanisms for CNV formation are error prone","volume":"45","author":"Carvalho","year":"2013","journal-title":"Nature Genet."},{"key":"B47","doi-asserted-by":"publisher","first-page":"1399","DOI":"10.1083\/jcb.150.6.1399","article-title":"Assembly of the dystrophin-associated protein complex does not require the dystrophin COOH-terminal domain","volume":"150","author":"Crawford","year":"2000","journal-title":"J Cell Biol."},{"key":"B48","doi-asserted-by":"publisher","first-page":"572","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 Genomics."},{"key":"B49","doi-asserted-by":"publisher","first-page":"440","DOI":"10.1101\/gr.193359.115","article-title":"Alternative splicing modulated by genetic variants demonstrates accelerated evolution regulated by highly conserved proteins","volume":"26","author":"Hsiao","year":"2016","journal-title":"Genome Res."},{"key":"B50","doi-asserted-by":"publisher","first-page":"1254806","DOI":"10.1126\/science.1254806","article-title":"RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease","volume":"347","author":"Xiong","year":"2015","journal-title":"Science."},{"key":"B51","doi-asserted-by":"publisher","first-page":"1080","DOI":"10.1002\/humu.22353","article-title":"Dissecting the structure and mechanism of a complex duplication\u2013triplication rearrangement in the DMD gene","volume":"34","author":"Ishmukhametova","year":"2013","journal-title":"Hum Mutat."},{"key":"B52","doi-asserted-by":"publisher","first-page":"80","DOI":"10.1002\/ajmg.1320560118","article-title":"Somatic mosaicism for a DMD gene deletion","volume":"56","author":"Saito","year":"1995","journal-title":"Ame J Med Genet."},{"key":"B53","doi-asserted-by":"publisher","first-page":"196","DOI":"10.1002\/humu.20428","article-title":"Multiexon skipping leading to an artificial DMD protein lacking amino acids from exons 45 through 55 could rescue up to 63% of patients with duchenne muscular dystrophy","volume":"28","author":"Christophe","year":"2010","journal-title":"Hum Mutat."}],"container-title":["Frontiers in Neurology"],"original-title":[],"link":[{"URL":"https:\/\/www.frontiersin.org\/article\/10.3389\/fneur.2020.572006\/full","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2020,9,30]],"date-time":"2020-09-30T06:18:12Z","timestamp":1601446692000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.frontiersin.org\/article\/10.3389\/fneur.2020.572006\/full"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2020,9,30]]},"references-count":53,"alternative-id":["10.3389\/fneur.2020.572006"],"URL":"https:\/\/doi.org\/10.3389\/fneur.2020.572006","relation":{},"ISSN":["1664-2295"],"issn-type":[{"type":"electronic","value":"1664-2295"}],"subject":[],"published":{"date-parts":[[2020,9,30]]},"article-number":"572006"}}