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Article

Congenital myasthenia syndrome in a Chinese family with mutations in MUSK: A hotspot mutation and literature review.

Journal of clinical neuroscience : official journal of the Neurosurgical Society of Australasia - 1 Jun 2020

Liu Yiqi, Qiao Kai, Yan Chong, Song Jie, Huan Xiao, Luo Sushan, Lu Jiahong, Zhao Chongbo, Xi Jianying

Abstract excerpt

Congenital myasthenic syndrome (CMS) caused by mutations in MUSK is very rare and the genotype-phenotype relationship in MUSK related CMS is still unclear. Here we identified two patients carrying a homozygous hotspot mutation, c.308A > G in MUSK from a Chinese family. Both of them presented predominant bulbar weakness and atrophy of bilateral temporalis and masticatory muscles. To address the phenotype-genotype...

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Identifiers

PMID: 32253145
DOI: 10.1016/j.jocn.2020.03.036

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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