ArticleAnnals of clinical and translational neurology2025
Influence of Dystrophin Isoform Deficiency on Motor Development in Duchenne Muscular Dystrophy.
Article in Annals of clinical and translational neurology, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.
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Who cites it
1 citing paper in PubMed.
- Clinical challenges of an Xp21 contiguous gene deletion syndrome in a newborn and 15 months of follow-up - case report.Frontiers in endocrinology · 2026Article
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Authors and funding
8 authors.
Funding
Abstract
objectiveIn Duchenne muscular dystrophy (DMD), lack of the shorter dystrophin isoforms Dp140 and Dp71 is associated with increased central nervous system (CNS) involvement. We aimed to investigate how CNS involvement affects motor development in young DMD boys.
methodThree hundred and forty-two DMD boys aged 3-6 years were subdivided according to DMD mutation expected effects on isoform expression: Group 1 (Dp427 absent, Dp140/Dp71 present, n = 170); Group 2 (Dp427/Dp140 absent, Dp71 present, n = 154) and Group 3 (Dp427/Dp140/Dp71 absent, n = 18). Mixed effects logistic regression was used to investigate relationships between isoform group and the odds of achieving higher North Star Ambulatory Assessment (NSAA) subitem scores for 15 subitems, adjusting for age at visit and glucocorticoid exposure.
resultsThe odds of achieving a full score of 2 were significantly lower for 11 NSAA subitems in Group 2 compared to Group 1, 5 NSAA subitems in Group 3 compared to Group 1, and 2 NSAA subitems in Group 3 compared to Group 2. The odds of achieving a score of 2 or 1 compared to 0 were significantly lower in Group 2 compared to Group 1 for the 2 NSAA subitems studied using this comparison.
interpretationWe found strong and significant associations between the odds of achieving higher NSAA subitem scores and expected patterns of dystrophin isoform involvement, with a cumulative effect of loss of isoforms. This suggests an important relationship between dystrophin isoforms in the brain and the ability to carry out gross motor milestones.
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