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Article

Novel copy number variation of COLQ gene in a Moroccan patient with congenital myasthenic syndrome: a case report and review of the literature.

BMC neurology - 5 Aug 2022

El Kadiri Youssef, Ratbi Ilham, Sefiani Abdelaziz, Lyahyai Jaber

Abstract excerpt

BACKGROUND: Congenital myasthenic syndromes (CMSs) are rare genetic diseases due to abnormalities of the neuromuscular junction leading to permanent or transient muscle fatigability and weakness. To date, 32 genes were found to be involved in CMSs with autosomal dominant and/or recessive inheritance patterns. CMS with acetylcholinesterase deficiency, in particular, was determined to be due to biallelic mutations...

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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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Identifiers

PMID: 35932018
DOI: 10.1186/s12883-022-02822-y
PMCID: PMC9354381

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