Article

Detection of a new deleterious SGCE gene variant in Moroccan family with inherited Myoclonic-dystonia

2021-09-25

Abstract excerpt

Myoclonus-Dystonia is a neuropsychiatric disorder with autosomal dominant mode of inheritance with variable severity and incomplete penetrance. Pathogenic variants in SGCE are the most frequent genetic cause of M-D with maternal imprinting. Herein we report a new deleterious variant based on protein modeling analysis (c.662G> T) inherited in moroccan family.

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Literature Corpus work: 5ee2b86d-d35d-57ca-968e-8a96d50486cf
DOI: 10.22541/au.163254136.66611445/v1

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