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Article

Long-term follow-up of patients with congenital myasthenic syndrome caused by COLQ mutations.

Neuromuscular disorders : NMD - 1 Apr 2012

Wargon I, Richard P, Kuntzer T, Sternberg D, Nafissi S, Gaudon K, Lebail A, Bauche S, Hantaï D, Fournier E, Eymard B, Stojkovic T

Abstract excerpt

Congenital myasthenic syndromes (CMS) are clinically and genetically heterogeneous inherited disorders characterized by impaired neuromuscular transmission. Mutations in the acetylcholinesterase (AChE) collagen-like tail subunit gene (COlQ) cause recessive forms of synaptic CMS with end plate AChE deficiency. We present data on 15 COLQ -mutant CMS carrying 16 different mutations (9 novel ones identified)...

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Share to Acetylcholinesterase
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 22088788
DOI: 10.1016/j.nmd.2011.09.002

Genes

COLQ
DAP

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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Long-term follow-up of patients with congenital myasthenic syndrome caused by COLQ mutations.PMID 22088788Read ↗

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