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Article

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

International journal of molecular sciences - 13 Feb 2023

Ohno Kinji, Ohkawara Bisei, Shen Xin-Ming, Selcen Duygu, Engel Andrew G

Abstract excerpt

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, CHD8, CHRNA1, CHRNB1, CHRND, CHRNE, CHRNG, COL13A1, COLQ, DOK7, DPAGT1, GFPT1, GMPPB, LAMA5, LAMB2, LRP4, MUSK,...

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Identifiers

PMID: 36835142
DOI: 10.3390/ijms24043730
PMCID: PMC9961056

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Source receipt: pubmed, retrieved 7 Sept 2026.

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