Influence of Dystrophin Isoform Deficiency on Motor Development in Duchenne Muscular Dystrophy
We 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.
Authors
- Georgia Stimpson (ORCID: https://orcid.org/0000-0003-2795-9898)
- Giovanni Baranello (ORCID: https://orcid.org/0000-0003-4871-6692)
- Mary Chesshyre (ORCID: https://orcid.org/0000-0001-6061-2218)
- Deborah Ridout (ORCID: https://orcid.org/0000-0003-1336-6450)
- Laurent Servais (ORCID: https://orcid.org/0000-0001-9270-4061)
- Francesco Muntoni (ORCID: https://orcid.org/0000-0002-9102-5232)
- Adnan Manzur
Institutions
- University of Liège (BE)
- Great Ormond Street Hospital (GB)
- John Radcliffe Hospital (GB)
- NIHR Great Ormond Street Hospital Biomedical Research Centre (GB)
- University College London (GB)
Publication Details
- Journal
- Annals of Clinical and Translational Neurology
- Published
- 2025-06-24
- DOI
- https://doi.org/10.1002/acn3.70097
- Citations
- 1
- Primary Topic
- Muscle Physiology and Disorders
- Type
- article
- Field-Weighted Citation Impact
- 0.81
Funders
- Muscular Dystrophy UK
- European Commission