Congenital myasthenic syndromes by Epsilon subunit mutations: Phenotypic profiles of 17 Algerian families.

Autor: Kediha MI; Neurology department Mustapha Bacha university hospital, Benyoucef Benkhedda medical school, Algiers, Algeria. Electronic address: kediha.islam@gmail.com., Tazir M; Neurology department Mustapha Bacha university hospital, Benyoucef Benkhedda medical school, Algiers, Algeria., Sternberg D; Myogenetics laboratory, Pitié Salpetriere university hospital, Paris, France., Eymard B; Neurology department, Pitié Saleptriere university hospital, Paris, France., Ali Pacha L; Neurology department Mustapha Bacha university hospital, Benyoucef Benkhedda medical school, Algiers, Algeria.
Jazyk: angličtina
Zdroj: Revue neurologique [Rev Neurol (Paris)] 2024 Oct 07. Date of Electronic Publication: 2024 Oct 07.
DOI: 10.1016/j.neurol.2024.09.007
Abstrakt: 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.
(Copyright © 2024 Elsevier Masson SAS. All rights reserved.)
Databáze: MEDLINE
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