{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,12]],"date-time":"2026-10-12T20:35:34Z","timestamp":1791837334564,"version":"4.3.4"},"reference-count":34,"publisher":"Oxford University Press (OUP)","issue":"5","license":[{"start":{"date-parts":[[2024,11,5]],"date-time":"2024-11-05T00:00:00Z","timestamp":1730764800000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/academic.oup.com\/pages\/standard-publication-reuse-rights"}],"funder":[{"DOI":"10.13039\/501100003196","name":"Italian Ministry of Health","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100003196","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100030845","name":"IRCCS Stella Maris Foundation","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100030845","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2025,5,13]]},"abstract":"<jats:title>Abstract<\/jats:title>\n               <jats:p>Becker muscular dystrophy (BMD) is an X-linked neuromuscular disease attributable to mutations in DMD, leading to a deficient and less functional dystrophin, mainly in skeletal and cardiac muscle. Understanding the natural history of BMD is crucial for optimizing patient care and developing targeted treatments.<\/jats:p>\n               <jats:p>Retrospective data were collected from 943 patients diagnosed with BMD based on a combination of clinical, biochemical and genetic criteria followed by 17 Italian neuromuscular centres. Patients\u2019 demographics, main signs and symptoms at BMD onset, neuropsychiatric comorbidities, age at loss of ambulation, cardiac left ventricular ejection fraction, pulmonary forced vital capacity and DMD mutations were collected. Disease milestones were analysed in specific DMD mutational groups.<\/jats:p>\n               <jats:p>The median age at the last assessment was 26.0 (16.6\u201341.9) years, with a median age at diagnosis of 7.5 (4.0\u201314.0) years. In 55% of patients, the diagnosis was prompted by the incidental finding of hyperCKaemia. At the last assessment, 13.5% of patients had lost the ability to walk at a median age estimated by Kaplan\u2013Meier analysis of 69 years. Thirty per cent of patients exhibited left ventricular impairment and 2.7% respiratory involvement. Ten per cent of patients carried out-of-frame mutations, 4% nonsense mutations and 86% in-frame deletions\/duplications. The subset of in-frame deletions was classified further based on the specific mutations. Patients carrying del45\u201349 compared with del45\u201347 were associated with an earlier loss of ambulation (P = 1 \u00d7 10\u22124), whereas patients with del45\u201355 (P = 0.005), del48 (P = 0.02) and del48\u201349 (P = 0.02) were correlated with a later loss of ambulation compared with del45\u201347. Both del45\u201355 (P = 0.002) and del48 (P = 0.003) were significantly associated with decreased odds of developing a pathological left ventricular ejection fraction compared with del45\u201347.<\/jats:p>\n               <jats:p>Our results contribute to a better understanding of the natural history of BMD and capture precious data in the era of emerging therapies. The knowledge of the specific DMD mutation might help to define a prognosis in a subset of BMD patients and will serve as a model for the design of future therapies.<\/jats:p>","DOI":"10.1093\/brain\/awae358","type":"journal-article","created":{"date-parts":[[2024,11,5]],"date-time":"2024-11-05T18:08:14Z","timestamp":1730830094000},"page":"1695-1706","source":"Crossref","is-referenced-by-count":15,"title":["Natural history of Becker muscular dystrophy: <i>DMD<\/i> gene mutations predict clinical severity"],"prefix":"10.1093","volume":"148","author":[{"ORCID":"https:\/\/orcid.org\/0009-0004-1887-7270","authenticated-orcid":false,"given":"Domenico","family":"Gorgoglione","sequence":"first","affiliation":[{"name":"Department of Neurosciences, Neuromuscular Center, University of Padova , Padova 35128 ,","place":["Italy"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Daniele","family":"Sabbatini","sequence":"additional","affiliation":[{"name":"Department of Neurosciences, Neuromuscular Center, University of Padova , Padova 35128 ,","place":["Italy"]},{"name":"Unit of Biostatistics, Epidemiology and Public Health, Department of Cardiac, Thoracic, Vascular Sciences, and Public Health, University of Padova , Padova 35131 ,","place":["Italy"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Pietro","family":"Riguzzi","sequence":"additional","affiliation":[{"name":"Department of Neurosciences, Neuromuscular Center, University of Padova , Padova 35128 ,","place":["Italy"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Giuliana","family":"Capece","sequence":"additional","affiliation":[{"name":"Department of Neurosciences, Neuromuscular Center, University of Padova , Padova 35128 ,","place":["Italy"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marika","family":"Pane","sequence":"additional","affiliation":[{"name":"Pediatric Neurology, Universit\u00e0 Cattolica del Sacro Cuore , Roma 00168 ,","place":["Italy"]},{"name":"Centro Clinico Nemo Pediatrico, Fondazione Policlinico Universitario Agostino Gemelli IRCCS , Roma 00168 ,","place":["Italy"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Serenella","family":"Servidei","sequence":"additional","affiliation":[{"name":"Neurophysiopathology Unit, Dipartimento di Neuroscienze, Organi di Senso e Torace, Fondazione Policlinico Universitario A. Gemelli IRCCS , Rome 00168 ,","place":["Italy"]},{"name":"Dipartimento Universitario di Neuroscienze, Universit\u00e0 Cattolica del Sacro Cuore , Rome 00168 ,","place":["Italy"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marta","family":"Briganti","sequence":"additional","affiliation":[{"name":"Neurophysiopathology Unit, Dipartimento di Neuroscienze, Organi di Senso e Torace, Fondazione Policlinico Universitario A. Gemelli IRCCS , Rome 00168 ,","place":["Italy"]},{"name":"Fondazione UILDM Lazio Onlus , Rome 00167 ,","place":["Italy"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Cristina","family":"Sancricca","sequence":"additional","affiliation":[{"name":"Neurophysiopathology Unit, Dipartimento di Neuroscienze, Organi di Senso e Torace, Fondazione Policlinico Universitario A. 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