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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...
Autores principales: | An, Ran, Chen, Huijiao, Lei, Song, Li, Yi, Xu, Yanming, He, Chengqi |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Frontiers Media S.A.
2022
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Materias: | |
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 |
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