[SMC] Congenital myasthenic syndromes by Epsilon subunit mutations: Phenotypic profiles of 17 Algerian families

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Rev Neurol (Paris). 2024 Oct 7:S0035-3787(24)00599-X. doi: 10.1016/j.neurol.2024.09.007. Online ahead of print.

ABSTRACT

BACKGROUND: Congenital myasthenic syndromes (CMS) are a heterogeneous group of rare genetic disorders. The acetyl choline receptor contains five subunits, with a predominance of mutations affecting the epsilon subunit gene called cholinergic receptor nicotinic epsilon (CHRNE) gene.

OBJECTIVE: To study the clinical phenotype of 17 families with CHRNE gene mutations.

METHODS: We report a series of 17 families with 22 affected patients carrying different mutations encoding CHRNE proteins.

RESULTS: We studied their clinical and biological phenotypes, as well as their evolutionary profile and their response to the different therapies proposed. A phenotypic comparison was made between the families carrying the founding Maghrebian mutation and the other mutations found in this series.

CONCLUSION: The CHRNE gene mutations are the most frequent ones in CMS. The phenotypes reported in this study are heterogeneous, and can depend on the causative mutation.

PMID:39379219 | DOI:10.1016/j.neurol.2024.09.007


Source: https://pubmed.ncbi.nlm.nih.gov/3937921 ... t9+e462414