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Article

Congenital myasthenic syndrome due to novel CHAT mutations in an ethnic kadazandusun family.

Muscle & nerve - 1 May 2016

Tan Joo-San, Ambang Tomica, Ahmad-Annuar Azlina, Rajahram Giri Shan, Wong Kum Thong, Goh Khean Jin

Abstract excerpt

INTRODUCTION: Choline acetyltransferase (CHAT) gene mutations cause a rare presynaptic congenital myasthenic syndrome due to impaired acetylcholine resynthesis. METHODS: We report 2 Kadazandusun brothers with novel heterozygous CHAT mutations. RESULTS: The siblings were from a family of 7 children of nonconsanguineous parents, 3 who died from apneic crises. Both presented in infancy with ptosis and exertional...

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Source

Identifiers

PMID: 26789281
DOI: 10.1002/mus.25037

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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