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Article

Recurrent COLQ mutation in congenital myasthenic syndrome.

Pediatric neurology - 1 Apr 2012

Guven Alev, Demirci Mehmet, Anlar Banu

Abstract excerpt

Congenital myasthenic syndromes comprise clinically and genetically heterogeneous disorders resulting from presynaptic, synaptic, or postsynaptic defects. Mutations in the COLQ gene result in acetylcholinesterase deficiency and cause a rare, autosomal recessive synaptic form of congenital myasthe...

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Source

Identifiers

PMID: 22490774
DOI: 10.1016/j.pediatrneurol.2012.02.003

Genes

COLQ

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-22490774-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

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Recurrent COLQ mutation in congenital myasthenic syndrome.PMID 22490774Read ↗

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A rare mutation in the COLQ gene causing congenital myasthenic syndrome with remarkable improvement to fluoxetine: A case report.Semantic proximity Read ↗

Further observations in congenital myasthenic syndromes.Semantic proximity Read ↗

Congenital myasthenic syndromes in Turkey: Clinical clues and prognosis with long term follow-up.Semantic proximity Read ↗

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

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

First characterization of congenital myasthenic syndrome type 5 in North Africa.Semantic proximity Read ↗

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