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Article

Clinical and Genetic Features of Congenital Myasthenic Syndromes due to CHAT Mutations: Case Report and Literature Review.

Neuropediatrics - 1 Aug 2018

Arican Pinar, Gencpinar Pinar, Cavusoglu Dilek, Olgac Dundar Nihal

Abstract excerpt

Congenital myasthenic syndromes (CMS) are neuromuscular transmission disorders caused by mutations in genes encoding neuromuscular junction proteins. CMS due to choline acetyltransferase (CHAT) gene is characterized by episodic apnea. We report a case of a 12-month-old female patient presented with recurrent episodic apnea carrying a mutation in CHAT gene, p.I336T. Furthermore, we describe the genetic and...

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Identifiers

PMID: 29783273
DOI: 10.1055/s-0038-1654706

Genes

CHAT

Variants

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026.

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