학술논문
Detection of a new deleterious SGCE gene variant in Moroccan family with inherited myoclonus–dystonia.
Document Type
Case Study
Author
Source
Subject
*GENETIC variation
*MISSENSE mutation
*MOROCCANS
*NEUROBEHAVIORAL disorders
*PROTEIN analysis
*MOVEMENT disorders
*RECESSIVE genes
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Language
ISSN
2050-0904
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 ξ‐sarcoglycan gene SGCE are the most frequently known genetic cause of M‐D with maternal imprinting, and in most cases, a symptomatic individual inherits the pathogenic variant from his or her father. This work reported a missense mutation c.662G> T inherited in the M‐D Moroccan family described for the first time, which is deleterious based on protein modeling analysis. [ABSTRACT FROM AUTHOR]