{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,20]],"date-time":"2026-07-20T11:18:16Z","timestamp":1784546296063,"version":"3.55.0"},"reference-count":45,"publisher":"Wiley","issue":"10","license":[{"start":{"date-parts":[[2025,3,14]],"date-time":"2025-03-14T00:00:00Z","timestamp":1741910400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/100011724","name":"Muscular Dystrophy UK","doi-asserted-by":"publisher","award":["22GRO\u2010PG24\u20100598"],"award-info":[{"award-number":["22GRO\u2010PG24\u20100598"]}],"id":[{"id":"10.13039\/100011724","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Develop Med Child Neuro"],"published-print":{"date-parts":[[2025,10]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Aim<\/jats:title><jats:p>To investigate the associations between mutations expected to differentially affect Dp140 expression and long\u2010term trajectories of respiratory and upper\u2010limb motor outcomes in Duchenne muscular dystrophy (DMD).<\/jats:p><\/jats:sec><jats:sec><jats:title>Method<\/jats:title><jats:p>In a retrospective analysis of population\u2010based longitudinal data from three real\u2010world and natural history data sources, individuals with DMD aged 5\u2009years to 18\u2009years were subdivided according to the predicted effects of the participants' <jats:italic>DMD<\/jats:italic> mutation on dystrophin isoform expression (group 1, Dp427 absent, Dp140\/Dp71 present; group 2, Dp427\/Dp140 absent, Dp71 present).<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>A total of 459 participants were studied, with upper\u2010limb outcomes assessed in 71 (27 in group 1 and 44 in group 2) and forced vital capacity percentage predicted (%pred) assessed in 434 (224 in group 1 and 210 in group 2). Mean grip strength %pred was on average 7.1 percentage points lower in group 2 than in group 1 (<jats:italic>p<\/jats:italic>\u2009=\u20090.03). Mean pinch strength %pred was on average 9.2 percentage points lower in group 2 than in group 1 (<jats:italic>p<\/jats:italic>\u2009=\u20090.04). Mean forced vital capacity %pred was on average 4.3 percentage points lower in group 2 than in group 1 (<jats:italic>p<\/jats:italic>\u2009=\u20090.01).<\/jats:p><\/jats:sec><jats:sec><jats:title>Interpretation<\/jats:title><jats:p>In individuals with DMD, <jats:italic>DMD<\/jats:italic> mutations predicted to affect Dp140 expression were associated with more severe trajectories of respiratory and upper\u2010limb motor outcomes.<\/jats:p><\/jats:sec>","DOI":"10.1111\/dmcn.16282","type":"journal-article","created":{"date-parts":[[2025,3,14]],"date-time":"2025-03-14T05:49:24Z","timestamp":1741931364000},"page":"1280-1289","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":3,"title":["Dystrophin isoform deficiency and upper\u2010limb and respiratory function in Duchenne muscular 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