Compound Heterozygous CHAT Gene Mutations of a Large Deletion and a Missense Variant in a Chinese Patient With Severe Congenital Myasthenic Syndrome With Episodic Apnea

Congenital myasthenic syndromes (CMSs) are a group of inherited disorders caused by genetic defects in neuromuscular junctions. Mutations in CHAT, encoding choline acetyltransferase, cause congenital myasthenic syndrome with episodic apnea (CMS-EA), a rare autosomal recessive disease characterized b...

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Detalhes bibliográficos
Publicado no:Front Pharmacol
Main Authors: Liu, Zhimei, Zhang, Li, Shen, Danmin, Ding, Changhong, Yang, Xinying, Zhang, Weihua, Li, Jiuwei, Deng, Jie, Gong, Shuai, Liu, Jun, Qian, Suyun, Fang, Fang
Formato: Artigo
Idioma:Inglês
Publicado em: Frontiers Media S.A. 2019
Assuntos:
Pharmacology
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC6422987/
https://ncbi.nlm.nih.gov/pubmed/30914958
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3389/fphar.2019.00259
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