{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,4]],"date-time":"2026-05-04T01:09:58Z","timestamp":1777856998282,"version":"3.51.4"},"reference-count":20,"publisher":"SAGE Publications","issue":"2","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["JND"],"published-print":{"date-parts":[[2021,3,2]]},"abstract":"<jats:p>Duchenne (DMD) and Becker muscular dystrophies (BMD) are rare neuromuscular disorders caused by mutations in the dystrophin gene and failure in its protein production. The absence or the reduced expression of dystrophin render muscles prone to damage, including the cardiac and respiratory muscles with reduced life expectancy. Careful planning for clinical trials will require a sufficient number of confirmed cases to meet the inclusion criteria. National registries for rare disorders serve as an essential tool for personalized medicines or mutation-specific trials to facilitate patient recruitment. The Iranian Registry of DMD and BMD (IRDAB) collects detailed molecular data of Iranian DMD\/BMD patients and carriers according to the TREAT-NMD Global Neuromuscular Network guidelines. As of March 2020, five hundred and twenty-two cases are registered. The registry incorporates multi-level web and database technologies, where registrants can access their data and compare it to the cumulative data. The registry\u2019s objectives are to recruit eligible patients for clinical trials and provide sufficient data for the national program of disease surveillance and social planning. Furthermore, the registry provides accurate epidemiological data, phenotype\/genotype correlation, and evaluate the standards of care in Iran.<\/jats:p>","DOI":"10.3233\/jnd-200540","type":"journal-article","created":{"date-parts":[[2020,12,8]],"date-time":"2020-12-08T23:39:00Z","timestamp":1607470740000},"page":"251-259","source":"Crossref","is-referenced-by-count":3,"title":["Iranian Registry of Duchenne and Becker Muscular Dystrophies: Characterization and Preliminary Data"],"prefix":"10.1177","volume":"8","author":[{"given":"Farhad","family":"Bayat","sequence":"first","affiliation":[{"name":"Department of Quality Control of Recombinant Vaccine Production, Karaj Research and Production Facilities, Tehran, Iran"},{"name":"Incubator of Biotechnology, Pasteur Institute of Iran, Tehran, Iran"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Isis G.","family":"Sarmiento","sequence":"additional","affiliation":[{"name":"Department of Quality Control of Recombinant Vaccine Production, Karaj Research and Production Facilities, Tehran, Iran"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Negar","family":"Ahmadian","sequence":"additional","affiliation":[{"name":"Faculty of Life Sciences and Biotechnology, Shahid Beheshti University, Tehran, Iran"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Zahra","family":"Dehghani","sequence":"additional","affiliation":[{"name":"Faculty of Biology, Tehran university, Tehran, Iran"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"179","reference":[{"key":"10.3233\/JND-200540_ref1","doi-asserted-by":"crossref","first-page":"109","DOI":"10.1016\/0888-7543(88)90091-2","article-title":"Further studies of gene deletions that cause Duchenne and Becker muscular dystrophies","volume":"2","author":"Forrest","year":"1988","journal-title":"Genomics"},{"key":"10.3233\/JND-200540_ref2","doi-asserted-by":"publisher","DOI":"10.1542\/peds.2014-44"},{"issue":"6","key":"10.3233\/JND-200540_ref3","doi-asserted-by":"crossref","first-page":"681","DOI":"10.1007\/BF00965555","article-title":"Duchenne muscular dystrophy and dystrophin: Sequence homology observations","volume":"16","author":"Gurusinghe","year":"1991","journal-title":"Neurochem Res"},{"issue":"4879","key":"10.3233\/JND-200540_ref4","doi-asserted-by":"crossref","first-page":"755","DOI":"10.1126\/science.3055295","article-title":"Frame-shift deletions in patients with Duchenne and Becker muscular dystrophy","volume":"242","author":"Malhotra","year":"1988","journal-title":"Science"},{"key":"10.3233\/JND-200540_ref5","doi-asserted-by":"publisher","first-page":"373","DOI":"10.1038\/s41582-019-0203-3","article-title":"Therapeutic developments for Duchenne muscular dystrophy","volume":"15","author":"Verhaart","year":"2019","journal-title":"Nature Reviews Neurology"},{"issue":"3","key":"10.3233\/JND-200540_ref6","doi-asserted-by":"publisher","first-page":"813","DOI":"10.1042\/BST20190282","article-title":"From diagnosis to therapy in Duchenne muscular dystrophy","volume":"48","author":"Babbs","year":"2020","journal-title":"Biochem Soc Trans"},{"issue":"Supplement 2","key":"10.3233\/JND-200540_ref8","doi-asserted-by":"publisher","first-page":"S17","DOI":"10.1542\/peds.2018-0333D","article-title":"Rehabilitation Management of the Patient With Duchenne Muscular Dystrophy","volume":"142","author":"Case","year":"2018","journal-title":"Pediatrics"},{"key":"10.3233\/JND-200540_ref9","doi-asserted-by":"crossref","first-page":"293","DOI":"10.3233\/JND-170280","article-title":"Clinical Outcomes in Duchenne Muscular Dystrophy: A Study of Patients from the TREAT-NMD DMD Global Database","volume":"4","author":"Koeks","year":"2017","journal-title":"J of Neuromuscular Diseases"},{"issue":"11","key":"10.3233\/JND-200540_ref10","doi-asserted-by":"crossref","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":"Human Mutation"},{"key":"10.3233\/JND-200540_ref11","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":"Human Mutation"},{"issue":"3","key":"10.3233\/JND-200540_ref13","doi-asserted-by":"publisher","first-page":"251","DOI":"10.1016\/S1474-4422(18)30024-3","article-title":"diagnosis and management of Duchenne muscular dystrophy, part diagnosis, and neuromuscular, rehabilitation, endocrine, and gastrointestinal and nutritional management","volume":"17","author":"Birnkrant","year":"2018","journal-title":"The Lancet Neurol"},{"key":"10.3233\/JND-200540_ref14","doi-asserted-by":"publisher","first-page":"43","DOI":"10.1186\/1471-2350-8-43","article-title":"Antisense-induced exon skipping for duplications in Duchenne muscular dystrophy","volume":"8","author":"Aartsma-Rus","year":"2007","journal-title":"BMC Medical Genetics"},{"key":"10.3233\/JND-200540_ref15","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\u201318 years old) in East China","volume":"10","author":"Li","year":"2015","journal-title":"Orphnet Journal of Rare Diseases"},{"key":"10.3233\/JND-200540_ref16","doi-asserted-by":"publisher","first-page":"60","DOI":"10.1186\/s13023-014-0220-7","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":"Orphnet Journal of Rare Diseases"},{"key":"10.3233\/JND-200540_ref17","doi-asserted-by":"publisher","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":"Neuromuscular Disorders"},{"key":"10.3233\/JND-200540_ref18","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","volume":"2","author":"Muntoni","year":"2003","journal-title":"The Lancet Neurol"},{"key":"10.3233\/JND-200540_ref19","doi-asserted-by":"publisher","first-page":"441","DOI":"10.3390\/jpm8040041","article-title":"Multiple Exon Skipping in the Duchenne Muscular Dystrophy Hot Spots: Prospects and Challenges","volume":"8","author":"Echigoya","year":"2018","journal-title":"J Pers Med"},{"key":"10.3233\/JND-200540_ref20","doi-asserted-by":"publisher","first-page":"177","DOI":"10.1002\/humu.20132","article-title":"Mutation rates in the dystrophin gene: A hotspot of mutation at a CpG dinucleotide","volume":"25","author":"Buzin","year":"2005","journal-title":"Human Mutation"},{"key":"10.3233\/JND-200540_ref21","doi-asserted-by":"publisher","first-page":"517","DOI":"10.3233\/JND-160185","article-title":"European cross-sectional survey of current care practices for Duchenne muscular dystrophy reveals regional and age-dependent differences","volume":"3","author":"Vry","year":"2016","journal-title":"Journal of Neuromuscular Diseases"},{"key":"10.3233\/JND-200540_ref22","doi-asserted-by":"publisher","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 Neurology"}],"container-title":["Journal of Neuromuscular Diseases"],"original-title":[],"link":[{"URL":"https:\/\/content.iospress.com\/download?id=10.3233\/JND-200540","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,4,29]],"date-time":"2026-04-29T23:49:35Z","timestamp":1777506575000},"score":1,"resource":{"primary":{"URL":"https:\/\/journals.sagepub.com\/doi\/full\/10.3233\/JND-200540"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2021,3,2]]},"references-count":20,"journal-issue":{"issue":"2"},"URL":"https:\/\/doi.org\/10.3233\/jnd-200540","relation":{},"ISSN":["2214-3599","2214-3602"],"issn-type":[{"value":"2214-3599","type":"print"},{"value":"2214-3602","type":"electronic"}],"subject":[],"published":{"date-parts":[[2021,3,2]]}}}