{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,30]],"date-time":"2026-09-30T11:24:22Z","timestamp":1790767462810,"version":"4.1.0"},"reference-count":29,"publisher":"Elsevier BV","license":[{"start":{"date-parts":[[2024,6,1]],"date-time":"2024-06-01T00:00:00Z","timestamp":1717200000000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2024,6,1]],"date-time":"2024-06-01T00:00:00Z","timestamp":1717200000000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"},{"start":{"date-parts":[[2024,4,18]],"date-time":"2024-04-18T00:00:00Z","timestamp":1713398400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc\/4.0\/"}],"funder":[{"DOI":"10.13039\/100014943","name":"Sarepta Therapeutics Inc","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100014943","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["clinicalkey.fr","clinicalkey.jp","clinicalkey.es","clinicalkey.com.au","nmd-journal.com","clinicalkey.com","elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Neuromuscular Disorders"],"published-print":{"date-parts":[[2024,6]]},"DOI":"10.1016\/j.nmd.2024.04.004","type":"journal-article","created":{"date-parts":[[2024,4,14]],"date-time":"2024-04-14T01:51:52Z","timestamp":1713059512000},"page":"5-9","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":11,"special_numbering":"C","title":["Long-term clinical follow-up of a family with Becker muscular dystrophy associated with a large deletion in the DMD gene"],"prefix":"10.1016","volume":"39","author":[{"given":"Kay E","family":"Davies","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Julie","family":"Vogt","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"issue":"1","key":"10.1016\/j.nmd.2024.04.004_bib0001","doi-asserted-by":"crossref","first-page":"84","DOI":"10.1186\/s12883-019-1304-8","article-title":"Variability and trends in corticosteroid use by male United States participants with Duchenne muscular dystrophy in the Duchenne Registry","volume":"19","author":"Cowen","year":"2019","journal-title":"BMC Neurol"},{"issue":"s2","key":"10.1016\/j.nmd.2024.04.004_bib0002","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"},{"issue":"1","key":"10.1016\/j.nmd.2024.04.004_bib0003","doi-asserted-by":"crossref","first-page":"77","DOI":"10.1016\/S1474-4422(09)70271-6","article-title":"Diagnosis and management of Duchenne muscular dystrophy, part 1: diagnosis, and pharmacological and psychosocial management","volume":"9","author":"Bushby","year":"2010","journal-title":"Lancet Neurol"},{"issue":"10","key":"10.1016\/j.nmd.2024.04.004_bib0004","doi-asserted-by":"crossref","first-page":"2337","DOI":"10.1016\/j.ymthe.2018.07.011","article-title":"Systemic AAV Micro-dystrophin Gene Therapy for Duchenne Muscular Dystrophy","volume":"26","author":"Duan","year":"2018","journal-title":"Mol Ther"},{"issue":"3","key":"10.1016\/j.nmd.2024.04.004_bib0005","doi-asserted-by":"crossref","first-page":"1223","DOI":"10.1002\/cphy.c140048","article-title":"The Dystrophin Complex: Structure, Function, and Implications for Therapy","volume":"5","author":"Gao","year":"2015","journal-title":"Compr Physiol"},{"issue":"2","key":"10.1016\/j.nmd.2024.04.004_bib0006","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"},{"issue":"1","key":"10.1016\/j.nmd.2024.04.004_bib0007","doi-asserted-by":"crossref","first-page":"79","DOI":"10.1186\/s13023-017-0631-3","article-title":"The burden, epidemiology, costs and treatment for Duchenne muscular dystrophy: an evidence review","volume":"12","author":"Ryder","year":"2017","journal-title":"Orphanet J Rare Dis"},{"issue":"3","key":"10.1016\/j.nmd.2024.04.004_bib0008","doi-asserted-by":"crossref","first-page":"486","DOI":"10.1016\/j.ymthe.2019.01.019","article-title":"Micro-dystrophin Genes Bring Hope of an Effective Therapy for Duchenne Muscular Dystrophy","volume":"27","author":"Davies","year":"2019","journal-title":"Mol Ther"},{"issue":"1","key":"10.1016\/j.nmd.2024.04.004_bib0009","doi-asserted-by":"crossref","first-page":"30","DOI":"10.1186\/1710-1492-9-30","article-title":"A practical guide to the monitoring and management of the complications of systemic corticosteroid therapy","volume":"9","author":"Liu","year":"2013","journal-title":"Allergy Asthma Clin Immunol"},{"issue":"s2","key":"10.1016\/j.nmd.2024.04.004_bib0010","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"},{"issue":"11","key":"10.1016\/j.nmd.2024.04.004_bib0011","doi-asserted-by":"crossref","first-page":"917","DOI":"10.1038\/s41573-023-00775-6","article-title":"Therapeutic approaches for Duchenne muscular dystrophy","volume":"22","author":"Roberts","year":"2023","journal-title":"Nat Rev Drug Discov"},{"key":"10.1016\/j.nmd.2024.04.004_bib0012","article-title":"Adeno-Associated Virus (AAV)-Mediated Gene Therapy for Duchenne Muscular Dystrophy: The Issue of Transgene Persistence","volume":"12","author":"Manini","year":"2021","journal-title":"Front Neurol"},{"issue":"6254","key":"10.1016\/j.nmd.2024.04.004_bib0013","doi-asserted-by":"crossref","first-page":"180","DOI":"10.1038\/343180a0","article-title":"Very mild muscular dystrophy associated with the deletion of 46% of dystrophin","volume":"343","author":"England","year":"1990","journal-title":"Nature"},{"issue":"3","key":"10.1016\/j.nmd.2024.04.004_bib0014","doi-asserted-by":"crossref","first-page":"263","DOI":"10.1080\/14712598.2020.1725469","article-title":"Clinical development on the frontier: gene therapy for duchenne muscular dystrophy","volume":"20","author":"Asher","year":"2020","journal-title":"Expert Opin Biol Ther"},{"issue":"18","key":"10.1016\/j.nmd.2024.04.004_bib0015","doi-asserted-by":"crossref","first-page":"e95918","DOI":"10.1172\/jci.insight.95918","article-title":"Functional correction of dystrophin actin binding domain mutations by genome editing","volume":"2","author":"Kyrychenko","year":"2017","journal-title":"JCI Insight"},{"issue":"8","key":"10.1016\/j.nmd.2024.04.004_bib0016","doi-asserted-by":"crossref","first-page":"4560","DOI":"10.1016\/S0021-9258(19)39599-7","article-title":"Detailed analysis of the repeat domain of dystrophin reveals four potential hinge segments that may confer flexibility","volume":"265","author":"Koenig","year":"1990","journal-title":"J Biol Chem"},{"issue":"12","key":"10.1016\/j.nmd.2024.04.004_bib0017","doi-asserted-by":"crossref","first-page":"2090","DOI":"10.1093\/hmg\/ddy113","article-title":"Variable rescue of microtubule and physiological phenotypes in mdx muscle expressing different miniaturized dystrophins","volume":"27","author":"Nelson","year":"2018","journal-title":"Hum Mol Genet"},{"issue":"1","key":"10.1016\/j.nmd.2024.04.004_bib0018","doi-asserted-by":"crossref","first-page":"13","DOI":"10.1038\/s41572-021-00248-3","article-title":"Aartsma-Rus A. Duchenne muscular dystrophy","volume":"7","author":"Duan","year":"2021","journal-title":"Nat Rev Dis Primers"},{"issue":"1","key":"10.1016\/j.nmd.2024.04.004_bib0019","doi-asserted-by":"crossref","first-page":"93","DOI":"10.1083\/jcb.134.1.93","article-title":"Forced expression of dystrophin deletion constructs reveals structure-function correlations","volume":"134","author":"Rafael","year":"1996","journal-title":"J Cell Biol"},{"issue":"8","key":"10.1016\/j.nmd.2024.04.004_bib0020","doi-asserted-by":"crossref","first-page":"253","DOI":"10.1038\/nm0302-253","article-title":"Modular flexibility of dystrophin: implications for gene therapy of Duchenne muscular dystrophy","volume":"8","author":"Harper","year":"2002","journal-title":"Nat Med"},{"issue":"5","key":"10.1016\/j.nmd.2024.04.004_bib0021","doi-asserted-by":"crossref","first-page":"1125","DOI":"10.1016\/j.ymthe.2017.02.019","article-title":"Progress toward Gene Therapy for Duchenne Muscular Dystrophy","volume":"25","author":"Chamberlain","year":"2017","journal-title":"Mol Ther"},{"issue":"6","key":"10.1016\/j.nmd.2024.04.004_bib0022","doi-asserted-by":"crossref","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"},{"issue":"15","key":"10.1016\/j.nmd.2024.04.004_bib0023","doi-asserted-by":"crossref","first-page":"3189","DOI":"10.1113\/jphysiol.2013.270306","article-title":"Molecular mechanisms of neuronal nitric oxide synthase in cardiac function and pathophysiology","volume":"592","author":"Zhang","year":"2014","journal-title":"J Physiol"},{"issue":"8","key":"10.1016\/j.nmd.2024.04.004_bib0024","doi-asserted-by":"crossref","first-page":"1251","DOI":"10.1093\/hmg\/4.8.1251","article-title":"Expression of full-length and truncated dystrophin mini-genes in transgenic mdx mice","volume":"4","author":"Phelps","year":"1995","journal-title":"Hum Mol Genet"},{"issue":"8","key":"10.1016\/j.nmd.2024.04.004_bib0025","doi-asserted-by":"crossref","first-page":"1245","DOI":"10.1093\/hmg\/4.8.1245","article-title":"Expression of human full-length and minidystrophin in transgenic mdx mice: implications for gene therapy of Duchenne muscular dystrophy","volume":"4","author":"Wells","year":"1995","journal-title":"Hum Mol Genet"},{"key":"10.1016\/j.nmd.2024.04.004_bib0026","unstructured":"US Food & Drug Administration. ELEVIDYS 2023 [Available from: https:\/\/www.fda.gov\/vaccines-blood-biologics\/tissue-tissue-products\/elevidys."},{"key":"10.1016\/j.nmd.2024.04.004_bib0027","doi-asserted-by":"crossref","first-page":"1121","DOI":"10.1001\/jamaneurol.2020.1484","article-title":"Assessment of Systemic Delivery of rAAVrh74.MHCK7.micro-dystrophin in Children With Duchenne Muscular Dystrophy: A Nonrandomized Controlled Trial","volume":"77","author":"Mendell","year":"2020","journal-title":"JAMA Neurol"},{"key":"10.1016\/j.nmd.2024.04.004_bib0028","unstructured":"ClinicalTrials.gov. NCT03368742: Microdystrophin Gene Transfer Study in Adolescents and Children With DMD (IGNITE DMD) 2022 [Available from: https:\/\/www.clinicaltrials.gov\/ct2\/show\/NCT03368742."},{"key":"10.1016\/j.nmd.2024.04.004_bib0029","unstructured":"ClinicalTrials.gov. NCT03362502: A Study to Evaluate the Safety and Tolerability of PF-06939926 Gene Therapy in Duchenne Muscular Dystrophy 2022 [Available from: https:\/\/classic.clinicaltrials.gov\/ct2\/show\/NCT03362502."}],"updated-by":[{"DOI":"10.1016\/j.nmd.2024.05.010","type":"erratum","label":"Erratum","source":"publisher","updated":{"date-parts":[[2024,6,1]],"date-time":"2024-06-01T00:00:00Z","timestamp":1717200000000}}],"container-title":["Neuromuscular Disorders"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0960896624000816?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0960896624000816?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2024,5,29]],"date-time":"2024-05-29T10:10:32Z","timestamp":1716977432000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0960896624000816"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2024,6]]},"references-count":29,"alternative-id":["S0960896624000816"],"URL":"https:\/\/doi.org\/10.1016\/j.nmd.2024.04.004","relation":{"erratum":[{"id-type":"doi","id":"10.1016\/j.nmd.2024.05.010","asserted-by":"object"}]},"ISSN":["0960-8966"],"issn-type":[{"value":"0960-8966","type":"print"}],"subject":[],"published":{"date-parts":[[2024,6]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Long-term clinical follow-up of a family with Becker muscular dystrophy associated with a large deletion in the DMD gene","name":"articletitle","label":"Article Title"},{"value":"Neuromuscular Disorders","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.nmd.2024.04.004","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2024 The Authors. Published by Elsevier B.V.","name":"copyright","label":"Copyright"}]}}