Abnormal decrement on high-frequency repetitive nerve stimulation in congenital myasthenic syndrome with GFPT1 mutations and review of literature

OBJECTIVES: Congenital myasthenic syndrome (CMS) is a clinically and genetically heterogeneous group of inherited disorders characterized by neuromuscular junction defects. Mutations in GFPT1 have been shown to underlie CMS. An increasing number of patients with CMS due to mutations in GFPT1 have be...

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Detalles Bibliográficos
Autores principales: An, Ran, Chen, Huijiao, Lei, Song, Li, Yi, Xu, Yanming, He, Chengqi
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2022
Materias:
Neurology
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9520358/
https://www.ncbi.nlm.nih.gov/pubmed/36188410
http://dx.doi.org/10.3389/fneur.2022.926786

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9520358/
https://www.ncbi.nlm.nih.gov/pubmed/36188410
http://dx.doi.org/10.3389/fneur.2022.926786

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