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