Clinical and Genetic Characterization of the Largest Cohort of Patients With <scp>D3</scp> Limb‐Girdle Muscular Dystrophy in an Isolated Uruguayan Population
LGMD D3 presents with a distinctive scapulo-pelvic-peroneal phenotype. To our knowledge, this is the largest LGMD D3 cluster and the first report of sex-dependent age of onset. Our study illustrates how genetic isolation can lead to high LGMD D3 prevalence in an admixed population and explores its potential origin.
Authors
- Beatriz Martins Vicente (ORCID: https://orcid.org/0000-0002-5959-120X)
- Elisa Demicheli
- A Santos (ORCID: https://orcid.org/0000-0002-6011-9025)
- Valentina Colistro (ORCID: https://orcid.org/0000-0002-5727-4980)
- Federica Benvenuto
- Nury Sánchez
- Andrea Zamora (ORCID: https://orcid.org/0000-0002-6260-2862)
- Mónica Sans (ORCID: https://orcid.org/0000-0002-1564-8761)
- Mercedes Chiesa (ORCID: https://orcid.org/0000-0002-6768-7762)
- Emilio Salazar
- Cristina Vázquez (ORCID: https://orcid.org/0000-0002-0020-8181)
Institutions
- Universidad de la República de Uruguay (UY)
Publication Details
- Journal
- European Journal of Neurology
- Published
- 2025-08-29
- DOI
- https://doi.org/10.1111/ene.70331
- Primary Topic
- Muscle Physiology and Disorders
- Type
- article
- Field-Weighted Citation Impact
- 0.00