Article
Genetic Aspects of Myoclonus-Dystonia Syndrome (MDS).
Molecular neurobiology - 1 Mar 2017
Rachad Laila, El Kadmiri Nadia, Slassi Ilham, El Otmani Hicham, Nadifi Sellama
Abstract excerpt
Myoclonus-dystonia (M-D) is an autosomal-dominant movement disorder with onset in the first two decades of life. Mutations in the epsilon-sarcoglycan gene (SGCE, DYT11) on chromosome 7q21-q31 represent the major genetic cause of M-D in some populations. The syndrome was related with mutations in two other genes (DRD2 and DYT1). A second locus has been reported in one large M-D family (DYT15, 18p11), but no gene...
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