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Article

Synaptic congenital myasthenic syndrome in three patients due to a novel missense mutation (T441A) of the COLQ gene.

Neuropediatrics - 1 Jun 2004

Müller J S, Petrova S, Kiefer R, Stucka R, König C, Baumeister S K, Huebner A, Lochmüller H, Abicht A

Abstract excerpt

Congenital myasthenic syndromes (CMS) with deficiency of endplate acetylcholinesterase (AChE) are caused by mutations in the synapse specific collagenic tail subunit gene (COLQ) of AChE. We identified a novel missense mutation (T441A) homozygously in three CMS patients from two unrelated German families. The mutation is located in the C-terminal region of the ColQ protein, which initiates assembly of the triple...

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Share to Acetylcholinesterase
Share to Collagen

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Share to Mutation, Missense

Share to Myasthenic Syndromes, Congenital

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Source

Identifiers

PMID: 15248101
DOI: 10.1055/s-2004-820996

Genes

COLQ

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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Synaptic congenital myasthenic syndrome in three patients due to a novel missense mutation (T441A) of the COLQ gene.PMID 15248101Read ↗

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