[SMC] Congenital myasthenic syndrome by mutation of the ColQ gene: Phenotypic and evolutionary profile of three Algerian

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Rev Neurol (Paris). 2023 Feb 8:S0035-3787(23)00754-3. doi: 10.1016/j.neurol.2022.09.008. Online ahead of print.

ABSTRACT

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 three consanguineous families, with seven affected patients, carrying three different mutations of the COLQ gene, one of which has never been reported in the literature before.

RESULTS: We studied their clinical and paraclinical phenotypes, and try to compare the three families as well as compare them with other series carrying COLQ gene mutations reported in the literature.

CONCLUSION: COLQ gene mutations have phenotypic particularities that must be recognized to propose appropriate genetic study.

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


Source: https://pubmed.ncbi.nlm.nih.gov/3676485 ... t6+86293ac