Clinical and Pathologic Features of Congenital Myasthenic Syndromes Caused by 35 Genes—A Comprehensive Review

Congenital myasthenic syndromes (CMS) are a heterogeneous group of disorders characterized by impaired neuromuscular signal transmission due to germline pathogenic variants in genes expressed at the neuromuscular junction (NMJ). A total of 35 genes have been reported in CMS (AGRN, ALG14, ALG2, CHAT,...

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Detalles Bibliográficos
Autores principales: Ohno, Kinji, Ohkawara, Bisei, Shen, Xin-Ming, Selcen, Duygu, Engel, Andrew G.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2023
Materias:
Review
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9961056/
https://www.ncbi.nlm.nih.gov/pubmed/36835142
http://dx.doi.org/10.3390/ijms24043730

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9961056/
https://www.ncbi.nlm.nih.gov/pubmed/36835142
http://dx.doi.org/10.3390/ijms24043730

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