{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,31]],"date-time":"2026-07-31T11:35:19Z","timestamp":1785497719016,"version":"3.56.0"},"reference-count":42,"publisher":"Wiley","issue":"12","license":[{"start":{"date-parts":[[2023,10,26]],"date-time":"2023-10-26T00:00:00Z","timestamp":1698278400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/100009619","name":"Japan Agency for Medical Research and Development","doi-asserted-by":"publisher","award":["JP20ek0109357"],"award-info":[{"award-number":["JP20ek0109357"]}],"id":[{"id":"10.13039\/100009619","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100009619","name":"Japan Agency for Medical Research and Development","doi-asserted-by":"publisher","award":["JP21ek0109533"],"award-info":[{"award-number":["JP21ek0109533"]}],"id":[{"id":"10.13039\/100009619","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Ann Clin Transl Neurol"],"published-print":{"date-parts":[[2023,12]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Objective<\/jats:title><jats:p>Becker muscular dystrophy (BMD) is a milder variant of Duchenne muscular dystrophy (DMD), a lethal X\u2010linked muscular disorder. Here, we aim to investigat the clinical involvement of skeletal, respiratory, cardiac, and central nervous systems in patients with BMD, as well as genotype\u2013phenotype relationships.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>This nationwide cohort study investigated the clinical manifestations and genotype\u2013phenotype relationships in 225 patients with BMD having in\u2010frame deletion from 22 medical centers. The primary outcome was to elucidate the association of genotype with skeletal muscle, respiratory, cardiac, and central nervous system disorders. Descriptive statistics were used to analyze the data.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>The average age of the subjects was 31.5 (range, 1\u201381) years. Initial symptoms of BMD were muscular (60%), followed by asymptomatic hypercreatine kinasemia (32.4%) and central nervous system disorders (5.3%). Gait disturbance was observed in 53.8% of patients and the average age at wheelchair introduction was 36.5\u2009years. The ventilator introduction rate was 6.7% at an average age of 36.6\u2009years. More than 30% of patients had an abnormal electrocardiogram and approximately 15% had heart failure symptoms. Cardiac function on echocardiography varied significantly among the patients. The frequencies of seizures and intellectual\/developmental disability were 8.0% and 16.9%, respectively. Exon 45\u201347deletion (del) was the most common (22.6%), followed by exon 45\u201348del (13.1%). Patients with exon 45\u201349del patients demonstrated severe skeletal muscle damage. Patients with exon 45\u201347del and exon 45\u201355del patients did not require ventilator use.<\/jats:p><\/jats:sec><jats:sec><jats:title>Interpretation<\/jats:title><jats:p>The study provides important prognostic information for patients and clinicians to establish therapy plans and to implement preventative medicine.<\/jats:p><\/jats:sec>","DOI":"10.1002\/acn3.51925","type":"journal-article","created":{"date-parts":[[2023,10,26]],"date-time":"2023-10-26T08:44:33Z","timestamp":1698309873000},"page":"2360-2372","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":32,"title":["Natural history of Becker muscular dystrophy: a multicenter study of 225 patients"],"prefix":"10.1002","volume":"10","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-8801-6688","authenticated-orcid":false,"given":"Akinori","family":"Nakamura","sequence":"first","affiliation":[{"name":"Department of Neurology NHO Matsumoto Medical Center  Matsumoto 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