Congenital Myasthenic Syndrome Caused by a Novel Hemizygous CHAT Mutation

Congenital Myasthenic Syndrome Caused by a Novel Hemizygous CHAT Mutation

Congenital myasthenic syndrome (CMS) is a neuromuscular transmission disorder caused by mutations in genes encoding neuromuscular junction proteins. CMS due to choline acetyltransferase (CHAT) gene mutation is characterized by episodic apnoea. To date, 52 cases of CMS caused by CHAT gene mutations h...

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Bibliographic Details
Main Authors: Yixia Zhang, Xinru Cheng, Chenghan Luo, Mengyuan Lei, Fengxia Mao, Zanyang Shi, Wenjun Cao, Jingdi Zhang, Qian Zhang
Format: Article
Language:English
Published: Frontiers Media S.A. 2020-04-01
Series:Frontiers in Pediatrics
Subjects:
congenital myasthenic syndrome
CHAT mutation
hemizygous
apnoea
genetic diagnosis
Online Access:https://www.frontiersin.org/article/10.3389/fped.2020.00185/full

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https://www.frontiersin.org/article/10.3389/fped.2020.00185/full

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