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,...
Topics
- Humans
- Albuterol
- Amifampridine
- Cholinesterase Inhibitors
- Mitochondrial Proteins
- Mutation
- Myasthenic Syndromes, Congenital
- NAV1.4 Voltage-Gated Sodium Channel
- Neuromuscular Junction
- Receptors, Cholinergic