Revue neurologique · 2024
Congenital myasthenic syndromes by Epsilon subunit mutations: Phenotypic profiles of 17 Algerian families.
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Kediha M I, Tazir M, Sternberg D, Eymard B, Ali Pacha L
Аннотация
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.
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.