Congenital myasthenic syndromes by Epsilon subunit mutations: Phenotypic profiles of 17 Algerian families - 08/10/24
, M. Tazir a, D. Sternberg b, B. Eymard c, L. Ali Pacha aAbstract |
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.
Le texte complet de cet article est disponible en PDF.Keywords : CHRNE, Congenital, Myasthenia, Post-synaptic, Phenotype
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