Expanding the phenotypic and imaging spectrum of GFPT1-related congenital myasthenic syndromes: a Brazilian case series
Our findings expand the clinical spectrum of GFPT1-CMS to include possible central nervous system involvement and demonstrate the value of integrating electrophysiology and muscle ultrasound into diagnostic evaluation. Muscle ultrasound may serve as a structural biomarker for phenotypic stratification in CMS, and distal involvement-particularly foot dorsiflexion weakness-represents an additional diagnostic clue for GFPT1-CMS.
Authors
- Antônio Edvan Camelo-Filho (ORCID: https://orcid.org/0000-0002-1213-1687)
- R. Alencar (ORCID: https://orcid.org/0009-0000-5305-4625)
- Tamiris Carneiro Mariano
- Paulo Ribeiro Nóbrega (ORCID: https://orcid.org/0000-0002-0021-9358)
- V Ricoca Peixoto
- André Luiz Santos Pessoa (ORCID: https://orcid.org/0000-0003-0043-5373)
- Gustavo Rodrigues Ferreira Gomes (ORCID: https://orcid.org/0009-0005-1023-6708)
- Ellen Mourão Soares Lopes
- Pedro Lucas Grangeiro Sá Barreto Lima
Institutions
- Universidade Estadual do Ceará (BR)
- Universidade Federal do Ceará (BR)
- Hospital Infantil Albert Sabin (BR)
Publication Details
- Journal
- Frontiers in Neurology
- Published
- 2025-11-14
- DOI
- https://doi.org/10.3389/fneur.2025.1683325
- Primary Topic
- Myasthenia Gravis and Thymoma
- Type
- article
- Field-Weighted Citation Impact
- 0.00