1 results match your criteria: "Benyoucef Benkhedda medical school[Affiliation]"
Congenital myasthenic syndromes by Epsilon subunit mutations: Phenotypic profiles of 17 Algerian families.
Rev Neurol (Paris)
January 2025
Neurology department Mustapha Bacha university hospital, Benyoucef Benkhedda medical school, Algiers, Algeria.
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.