SYT2-Related Disease: A Case-Based Review
The data summarized here and our case provide a general characterization of the phenotypic spectrum of SYT2-related disease and point out to its electrophysiological and pathological features. We discuss the intriguing aspects of a neuromuscular junction disease considered as a distal hereditary motor neuropathy.
Authors
- Alzira Alves de Siqueira Carvalho (ORCID: https://orcid.org/0000-0002-5485-7937)
- Pedro Nogueira Fontana (ORCID: https://orcid.org/0000-0002-3467-7613)
- Ana Marina Dutra Ferreira da Silva (ORCID: https://orcid.org/0009-0005-3841-3112)
- Carolina da Cunha Correia (ORCID: https://orcid.org/0000-0002-2211-3036)
Institutions
- Hospital Universitário Oswaldo Cruz (BR)
- Faculdade de Medicina do ABC (BR)
Publication Details
- Journal
- Journal of Clinical Neuromuscular Disease
- Published
- 2025-12-01
- DOI
- https://doi.org/10.1097/cnd.0000000000000508
- Primary Topic
- Hereditary Neurological Disorders
- Type
- article
- Field-Weighted Citation Impact
- 0.00