{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,14]],"date-time":"2026-08-14T19:29:50Z","timestamp":1786735790452,"version":"build-2736575974"},"reference-count":24,"publisher":"Ovid Technologies (Wolters Kluwer Health)","issue":"2","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Neurol India"],"published-print":{"date-parts":[[2020]]},"DOI":"10.4103\/0028-3886.284351","type":"journal-article","created":{"date-parts":[[2020,5,15]],"date-time":"2020-05-15T03:56:51Z","timestamp":1589515011000},"page":"518","source":"Crossref","is-referenced-by-count":1,"title":["A Symptomatic Female Patient with Duchenne Muscular Dystrophy Gene Mutation Showing Rimmed Vacuoles in Muscle Biopsy"],"prefix":"10.4103","volume":"68","author":[{"given":"Xianghui","family":"Lu","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rui","family":"Ban","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Chuanqiang","family":"Pu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Qiang","family":"Shi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Huifang","family":"Wang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Huaxu","family":"Liu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yutong","family":"Zhang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fang","family":"Fang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"276","reference":[{"key":"key-10.4103\/0028-3886.284351-1","doi-asserted-by":"crossref","first-page":"521","DOI":"10.1016\/j.nmd.2008.04.010","article-title":"Lysosomal myopathies: An excessive build-up in autophagosomes is too much to handle","author":"Malicdan","year":"2008","journal-title":"Neuromuscul Disord"},{"key":"key-10.4103\/0028-3886.284351-2","doi-asserted-by":"crossref","first-page":"546","DOI":"10.4161\/auto.4591","article-title":"Deconstructing Pompe disease by analyzing single muscle fibers: To see the world in a grain of sand","author":"Raben","year":"2007","journal-title":"Autophagy"},{"key":"key-10.4103\/0028-3886.284351-3","doi-asserted-by":"crossref","first-page":"583","DOI":"10.1007\/s00401-008-0449-0","article-title":"Inclusion-body myositis: Muscle-fiber molecular pathology and possible pathogenic significance of its similarity to Alzheimer's and Parkinson's disease brains","author":"Askanas","year":"2008","journal-title":"Acta Neuropathol"},{"key":"key-10.4103\/0028-3886.284351-4","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","author":"Muntoni","year":"2003","journal-title":"Lancet Neurol"},{"key":"key-10.4103\/0028-3886.284351-5","unstructured":"Darras BT, Urion DK, Ghosh PS. Dystrophinopathies. In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. SourceGeneReviews\u00ae [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2020. 2000 Sep 05."},{"key":"key-10.4103\/0028-3886.284351-6","first-page":"13","article-title":"Genetic characterization in symptomatic female DMD carriers: Lack of relationship between X-inactivation, transcriptional DMD allele balancing and phenotype","author":"Brioschi","year":"2012","journal-title":"BMC Med Genet"},{"key":"key-10.4103\/0028-3886.284351-7","first-page":"578","article-title":"An unusual variant of Becker muscular dystrophy","author":"de","year":"1990","journal-title":"Ann Neurol"},{"key":"key-10.4103\/0028-3886.284351-8","doi-asserted-by":"crossref","first-page":"e52002","DOI":"10.1371\/journal.pone.0052002","article-title":"Rimmed vacuoles in Becker muscular dystrophy have similar features with inclusion myopathies","author":"Momma","year":"2012","journal-title":"PLoS One"},{"key":"key-10.4103\/0028-3886.284351-9","doi-asserted-by":"crossref","first-page":"133","DOI":"10.1016\/S0960-8966(00)00169-3","article-title":"Novel dystrophin mutations revealed by analysis of dystrophin mRNA: Alternative splicing suppresses the phenotypic effect of a nonsense mutation","author":"Fajkusov\u00e1","year":"2001","journal-title":"Neuromuscul Disord"},{"key":"key-10.4103\/0028-3886.284351-10","doi-asserted-by":"crossref","first-page":"687","DOI":"10.1016\/S0140-6736(02)07815-7","article-title":"The muscular dystrophies","author":"Emery","year":"2002","journal-title":"Lancet"},{"key":"key-10.4103\/0028-3886.284351-11","doi-asserted-by":"crossref","first-page":"317","DOI":"10.1016\/S1525-1578(10)60560-0","article-title":"Experience and strategy for the molecular testing of Duchenne muscular dystrophy","author":"Prior","year":"2005","journal-title":"J Mol Diagn"},{"key":"key-10.4103\/0028-3886.284351-12","first-page":"682","article-title":"Duplicational mutation at the Duchenne muscular dystrophy locus: Its frequency, distribution, origin, and phenotype genotype correlation","author":"Hu","year":"1990","journal-title":"Am J Hum Genet"},{"key":"key-10.4103\/0028-3886.284351-13","doi-asserted-by":"crossref","first-page":"271","DOI":"10.1111\/j.1399-0004.1974.tb01694.x","article-title":"The manifesting carrier in Duchenne muscular dystrophy","author":"Moser","year":"1974","journal-title":"Clin Genet"},{"key":"key-10.4103\/0028-3886.284351-14","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","author":"Norman","year":"1989","journal-title":"Clin Genet"},{"key":"key-10.4103\/0028-3886.284351-15","doi-asserted-by":"crossref","first-page":"297","DOI":"10.1016\/0167-5273(92)90028-2","article-title":"The cardiomyopathy of Duchenne\/Becker consultands","author":"Comi","year":"1992","journal-title":"Int J Cardiol"},{"key":"key-10.4103\/0028-3886.284351-16","doi-asserted-by":"crossref","first-page":"202","DOI":"10.1016\/0387-7604(95)00018-7","article-title":"A carrier of Duchenne muscular dystrophy with dilated cardiomyopathy but no skeletal muscle symptom","author":"Kinoshita","year":"1995","journal-title":"Brain Dev"},{"key":"key-10.4103\/0028-3886.284351-17","doi-asserted-by":"crossref","first-page":"92","DOI":"10.1007\/s00439-005-1270-7","article-title":"Identification of deletions and duplications of the DMD gene in affected males and carrier females by multiple ligation probe amplification (MLPA)","author":"Gatta","year":"2005","journal-title":"Hum Genet"},{"key":"key-10.4103\/0028-3886.284351-18","doi-asserted-by":"crossref","first-page":"967","DOI":"10.1212\/WNL.42.5.967","article-title":"Dystrophinopathy in isolated cases of myopathy in females","author":"Hoffman","year":"1992","journal-title":"Neurology"},{"key":"key-10.4103\/0028-3886.284351-19","doi-asserted-by":"crossref","first-page":"192","DOI":"10.3349\/ymj.2011.52.1.192","article-title":"Three cases of manifesting female carriers in patients with Duchenne muscular dystrophy","author":"Song","year":"2011","journal-title":"Yonsei Med J"},{"key":"key-10.4103\/0028-3886.284351-20","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","author":"Hoogerwaard","year":"1999","journal-title":"Lancet"},{"key":"key-10.4103\/0028-3886.284351-21","doi-asserted-by":"crossref","first-page":"57","DOI":"10.1016\/0960-8966(93)90042-I","article-title":"Variability in clinical, genetic and protein abnormalities in manifesting carriers of Duchenne and Becker muscular dystrophy","author":"Bushby","year":"1993","journal-title":"Neuromuscul Disord"},{"key":"key-10.4103\/0028-3886.284351-22","doi-asserted-by":"crossref","first-page":"1984","DOI":"10.1212\/01.wnl.0000188909.89849.59","article-title":"Dystrophin analysis in carriers of Duchenne and Becker muscular dystrophy","author":"Hoogerwaard","year":"2005","journal-title":"Neurology"},{"key":"key-10.4103\/0028-3886.284351-23","doi-asserted-by":"crossref","first-page":"677","DOI":"10.1212\/WNL.45.4.677","article-title":"Genetic and biochemical normalization in female carriers of Duchenne muscular dystrophy: Evidence for failure of dystrophin production in dystrophin-competent myonuclei","author":"Pegoraro","year":"1995","journal-title":"Neurology"},{"key":"key-10.4103\/0028-3886.284351-24","doi-asserted-by":"crossref","first-page":"35","DOI":"10.1111\/j.1399-0004.1992.tb03133.x","article-title":"Variable dystrophin expression in different muscles of a Duchenne muscular dystrophy carrier","author":"Muntoni","year":"1992","journal-title":"Clin Genet"}],"container-title":["Neurology India"],"original-title":[],"language":"en","deposited":{"date-parts":[[2026,8,14]],"date-time":"2026-08-14T18:33:37Z","timestamp":1786732417000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.ovid.com\/10.4103\/0028-3886.284351"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2020]]},"references-count":24,"journal-issue":{"issue":"2","published-print":{"date-parts":[[2020]]}},"alternative-id":["284351"],"URL":"https:\/\/doi.org\/10.4103\/0028-3886.284351","relation":{},"ISSN":["0028-3886"],"issn-type":[{"value":"0028-3886","type":"print"}],"subject":[],"published":{"date-parts":[[2020]]}}}