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Article

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

Orphanet journal of rare diseases - 12 Mar 2024

Hesami Omid, Ramezani Mahtab, Ghasemi Aida, Fatehi Farzad, Okhovat Ali Asghar, Ziaadini Bentolhoda, Kariminejad Ariana, Nafissi Shahriar

Abstract excerpt

BACKGROUND: Congenital myasthenic syndrome (CMS) is a group of neuromuscular disorders caused by abnormal signal transmission at the motor endplate. Mutations in the collagen-like tail subunit gene (COLQ) of acetylcholinesterase are responsible for recessive forms of synaptic congenital myasthenic syndromes with end plate acetylcholinesterase deficiency. Clinical presentation includes ptosis, ophthalmoparesis,...

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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

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Identifiers

PMID: 38475910
DOI: 10.1186/s13023-024-03116-x
PMCID: PMC10935773

Genes

COLQ

Provenance

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

Related research

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Research trail→

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COLQ-Congenital myasthenic syndrome in an Iranian cohort: the clinical and genetics spectrum.PMID 38475910Read ↗

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Clinical and Pathologic Features of Congenital Myasthenic Syndromes Caused by 35 Genes-A Comprehensive Review.Semantic proximity Read ↗

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COLQ-related congenital myasthenic syndrome: An integrative view.Semantic proximity Read ↗

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