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

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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Bibliographic Details
Main Authors: Zhimei Liu, Li Zhang, Danmin Shen, Changhong Ding, Xinying Yang, Weihua Zhang, Jiuwei Li, Jie Deng, Shuai Gong, Jun Liu, Suyun Qian, Fang Fang
Format: Article
Language:English
Published: Frontiers Media S.A. 2019-03-01
Series:Frontiers in Pharmacology
Subjects:
CHAT
congenital myasthenic syndromes
episodic apnea
large deletion
severe
Online Access:https://www.frontiersin.org/article/10.3389/fphar.2019.00259/full

Internet

https://www.frontiersin.org/article/10.3389/fphar.2019.00259/full

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