Dystrophin isoform deficiency and upper‐limb and respiratory function in Duchenne muscular dystrophy
In individuals with DMD, DMD mutations predicted to affect Dp140 expression were associated with more severe trajectories of respiratory and upper-limb motor outcomes.
Authors
- Jean‐Yves Hogrel (ORCID: https://orcid.org/0000-0003-0045-7505)
- E. Niks (ORCID: https://orcid.org/0000-0001-5892-5143)
- Valeria Ricotti (ORCID: https://orcid.org/0000-0003-1800-1987)
- 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)
- Volker Straub (ORCID: https://orcid.org/0000-0001-9046-3540)
- Deborah Ridout (ORCID: https://orcid.org/0000-0003-1336-6450)
- Francesco Muntoni (ORCID: https://orcid.org/0000-0002-9102-5232)
- Silvana De Lucia
- Adnan Manzur
Institutions
- University of Liège (BE)
- Leiden University Medical Center (NL)
- Great Ormond Street Hospital (GB)
- Great Ormond Street Hospital for Children NHS Foundation Trust (GB)
- Newcastle upon Tyne Hospitals NHS Foundation Trust (GB)
- RCVS Knowledge (GB)
- Sorbonne Université (FR)
- University of Oxford (GB)
- Assistance Publique – Hôpitaux de Paris (FR)
- Association Francaise contre les Myopathies (FR)
- Institut de Myologie (FR)
- NIHR Newcastle Biomedical Research Centre (GB)
- Centre Hospitalier Universitaire de Liège (BE)
- Oxford BioMedica (United Kingdom) (GB)
- NIHR Great Ormond Street Hospital Biomedical Research Centre (GB)
- University College London (GB)
- Newcastle University (GB)
Publication Details
- Journal
- Developmental Medicine & Child Neurology
- Published
- 2025-03-14
- DOI
- https://doi.org/10.1111/dmcn.16282
- Citations
- 1
- Primary Topic
- Muscle Physiology and Disorders
- Type
- article
- Field-Weighted Citation Impact
- 0.81
Funders
- Muscular Dystrophy UK