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Article

Two novel mutations in the COLQ gene cause endplate acetylcholinesterase deficiency.

Neuromuscular disorders : NMD - 1 Mar 2003

Ishigaki Keiko, Nicolle Delphine, Krejci Eric, Leroy Jean-Paul, Koenig Jeanine, Fardeau Michel, Eymard Bruno, Hantaï Daniel

Abstract excerpt

Congenital myasthenic syndromes with endplate acetylcholinesterase deficiency are very rare autosomal recessive diseases, characterized by onset of the disease in childhood, general weakness increased by exertion, ophthalmoplegia and refractoriness to anticholinesterase drugs. To date, all reported cases are due to mutations within the gene encoding ColQ, a specific collagen that anchors acetylcholinesterase in...

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Source

Identifiers

PMID: 12609505
DOI: 10.1016/s0960-8966(02)00243-2

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.

Related research

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Research trail→

Click a neighbor to travelStep 1 · 12 closest

Two novel mutations in the COLQ gene cause endplate acetylcholinesterase deficiency.PMID 12609505Read ↗

Mutation in the human acetylcholinesterase-associated collagen gene, COLQ, is responsible for congenital myasthenic syndrome with end-plate acetylcholinesterase deficiency (Type Ic).Semantic proximity Read ↗

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

The First Case of Congenital Myasthenic Syndrome Caused by a Large Homozygous Deletion in the C-Terminal Region of COLQ (Collagen Like Tail Subunit of Asymmetric Acetylcholinesterase) Protein.Semantic proximity Read ↗

Clinical and molecular genetic findings in COLQ-mutant congenital myasthenic syndromes.Semantic proximity Read ↗

COLQ-Congenital myasthenic syndrome in an Iranian cohort: the clinical and genetics spectrum.Semantic proximity Read ↗

COOH-terminal collagen Q (COLQ) mutants causing human deficiency of endplate acetylcholinesterase impair the interaction of ColQ with proteins of the basal lamina.Semantic proximity Read ↗

Three novel COLQ mutations and variation of phenotypic expressivity due to G240X.Semantic proximity Read ↗

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

Human endplate acetylcholinesterase deficiency caused by mutations in the collagen-like tail subunit (ColQ) of the asymmetric enzyme.Semantic proximity Read ↗

Mutations in the C-Terminal Domain of ColQ in Endplate Acetylcholinesterase Deficiency Compromise ColQ-MuSK InteractionSemantic proximity Read ↗

Congenital endplate acetylcholinesterase deficiency responsive to ephedrine.Semantic proximity Read ↗

Congenital myasthenic syndromes: multiple molecular targets at the neuromuscular junction.Semantic proximity Read ↗

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