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Article

Congenital myasthenic syndrome by mutation of the ColQ gene: Phenotypic and evolutionary profile of three Algerian families.

Revue neurologique - 1 Jun 2023

Kediha M I, Tazir M, Magnouche C, Sternberg D, Belarbi S, Eymard B, Ali Pacha L

Abstract excerpt

BACKGROUND: Congenital myasthenic syndromes (CMS) are rare genetic neuromuscular disorders. The COLQ gene encoding the collagenous subunit of the acetyl cholinesterase enzyme tail is implicated in a synaptic form of CMS (also called type 5, according to the new gene table 2020 classification). OBJECTIVE: To study the clinical phenotype of three families with COLQ gene mutations. METHODS: We report a series of...

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Identifiers

PMID: 36764859
DOI: 10.1016/j.neurol.2022.09.008

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