Abstract:
Myoclonus-Dystonia (M-D) is a pleiotropic neuropsychiatric disorder with autosomal dominant mode of inheritance with variable severity and incomplete penetrance. Pathogenic variants in SGCE, are the most frequent known genetic cause of M-D with maternal imprinting and in most cases a symptomatic individual inherits the pathogenic variant from his/her father. Herein we report a missense mutation c.662G> T inherited in M-D moroccan family described for the first time which is deleterious based on protein modeling analysis.
Key words: familial Mycoclonus dystonia, SGCE gene ; Morocco; C.662G>T mutation; modelisation