biostudies-literatureChesshyre MEuropean Research CouncilGreat Ormond Street Hospital Children's CharityNational Institute on Handicapped ResearchMedical Research CouncilBrain Involvement iN DystrophinopathiesNational Institute for Health Research (NIHR)NIHR GOSH BRCMuscular Dystrophy UKNIHR Great Ormond Street Hospital Biomedical Research CentreBarts charity1360-1372https://www.ebi.ac.uk/biostudies/studies/S-EPMC8977977biostudies-literatureUnknown13(2)<h4>Background</h4>Duchenne muscular dystrophy (DMD) is caused by DMD mutations leading to dystrophin loss. Full-length Dp427 is the primary dystrophin isoform expressed in muscle and is also expressed in the central nervous system (CNS). Two shorter isoforms, Dp140 and Dp71, are highly expressed in the CNS. While a role for Dp140 and Dp71 on DMD CNS comorbidities is well known, relationships between mutations expected to disrupt Dp140 and Dp71 and motor outcomes are not.<h4>Methods</h4>Functional outcome data from 387 DMD boys aged 4-15 years were subdivided by DMD mutation expected effects on dystrophin isoform expression; Group 1 (Dp427 absent, Dp140/Dp71 present, n = 201); Group 2 (Dp427/Dp140 absent, Dp71 present, n = 152); and Group 3 (Dp427/Dp140/Dp71 absent, n = 34). Relationships Journal of cachexia, sarcopenia and muscleInvestigating the role of dystrophin isoform deficiency in motor function in Duchenne muscular dystrophy.PMC8977977CL-2018-18-008RA4/3023/116NMDB‐DB60‐0004NF-SI-0515-10022CL‐2018‐18‐00884782616NMDB-DB60-0004EUH2020lMGU0426MR/K000608/1 (Institute of Neurology, University College London)17GRO-PS48-0093RA4/3023ACF-2015-18-001759108Scoto MKowala ARidout DMaresh KManzur ALin YYAbbott LGupta VATedesco FSFerrari GChesshyre MMain MMuntoni FHashimoto YRicotti VBaranello GTorelli SOokubo YAoki YfalseInvestigating the role of dystrophin isoform deficiency in motor function in Duchenne muscular dystrophy.<h4>Background</h4>Duchenne muscular dystrophy (DMD) is caused by DMD mutations leading to dystrophin loss. Full-length Dp427 is the primary dystrophin isoform expressed in muscle and is also expressed in the central nervous system (CNS). Two shorter isoforms, Dp140 and Dp71, are highly expressed in the CNS. While a role for Dp140 and Dp71 on DMD CNS comorbidities is well known, relationships between mutations expected to disrupt Dp140 and Dp71 and motor outcomes are not.<h4>Methods</h4>Functional outcome data from 387 DMD boys aged 4-15 years were subdivided by DMD mutation expected effects on dystrophin isoform expression; Group 1 (Dp427 absent, Dp140/Dp71 present, n = 201); Group 2 (Dp427/Dp140 absent, Dp71 present, n = 152); and Group 3 (Dp427/Dp140/Dp71 absent, n = 34). Relationships 2022-01-01T00:00:00Z2022 Apr2025-04-19T00:42:20.455Z2025-04-07T11:45:50.036ZS-EPMC89779773508388710.1002/jcsm.12914