STAC3-related congenital myopathy in a Guarani Mbya patient from southern Brazil - a case report (P5-6.018)
To present a case of a non-Native American patient diagnosed with STAC3-related congenital myopathy, carrying the recurrent variant identified in the Lumbee people.
Authors
- Marco Antônio Machado Schlindwein (ORCID: https://orcid.org/0000-0003-3107-7548)
- Martim Tobias Bravo Leite
- Pablo Brea Winckler (ORCID: https://orcid.org/0000-0003-1952-9222)
- Leonardo Simão Medeiros (ORCID: https://orcid.org/0000-0002-0276-7817)
- Jonas Alex Morales Saute (ORCID: https://orcid.org/0000-0003-1141-6573)
- Graziella Rodrigues (ORCID: https://orcid.org/0000-0003-3628-3690)
- Frederico Arriaga Criscuoli de Farias
Institutions
- Universidade Federal do Rio Grande do Sul (BR)
- Hospital de Clínicas de Porto Alegre (BR)
- Neurology, Inc (US)
Publication Details
- Journal
- Neurology
- Published
- 2025-04-07
- DOI
- https://doi.org/10.1212/wnl.0000000000211592
- Primary Topic
- Glycogen Storage Diseases and Myoclonus
- Type
- article
- Field-Weighted Citation Impact
- 0.00