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Article

[Clinical and genetic characteristics of congenital myasthenia syndrome with episodic apnea caused by CHAT gene mutation: a report of 2 cases].

Zhonghua er ke za zhi = Chinese journal of pediatrics - 2 Mar 2018

Liu Z M, Fang F, Ding C H, Zhang W H, Deng J, Chen C H, Wang X, Liu J, Li Z, Jia X L, Zeng J S, Qian S Y

Abstract excerpt

Objective: To investigate the clinical and genetic features of congenital myasthenia syndrome with episodic apnea (CMS-EA) caused by gene mutation of choline acetyltransferase (CHAT) Methods: The clinical data of 2 patients with congenital myasthenia syndrome were collected, and both were diagnosed from 2013 to 2015 in Beijing Children's Hospital, Capital Medical University. The clinical features and gene...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 29518833
DOI: 10.3760/cma.j.issn.0578-1310.2018.03.012

Genes

CHAT

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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