Congenital myasthenic syndromes by Epsilon subunit mutations: Phenotypic profiles of 17 Algerian families - 08/10/24

Doi : 10.1016/j.neurol.2024.09.007

M.I. Kediha ^a,⁎ , M. Tazir ^a, D. Sternberg ^b, B. Eymard ^c, L. Ali Pacha ^a
^a Neurology department Mustapha Bacha university hospital, Benyoucef Benkhedda medical school, Algiers, Algeria
^b Myogenetics laboratory, Pitié Salpetriere university hospital, Paris, France
^c Neurology department, Pitié Saleptriere university hospital, Paris, France

^⁎Corresponding author. Neurology department, Mustapha Bacha university hospital, 1^st May place, Algiers, Algeria.Neurology department, Mustapha Bacha university hospital1^st May placeAlgiersAlgeria

En prensa. Pruebas corregidas por el autor. Disponible en línea desde el Tuesday 08 October 2024

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.

El texto completo de este artículo está disponible en PDF.

Keywords : CHRNE, Congenital, Myasthenia, Post-synaptic, Phenotype