title: Genetic Aspects of Myoclonus-Dystonia Syndrome (MDS).
abstract: 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 has been identified yet. In this review, we discuss genetic aspects of myoclonus-dystonia.
authors.affiliation: Laboratory of Medical Genetics and Molecular Pathology, Faculty of Medicine and Pharmacy Hassan II University of Casablanca, Casablanca, Morocco.
authors.forename: Laila
authors.initials: L
authors.lastname: Rachad
authors.affiliation: Laboratory of Medical Genetics and Molecular Pathology, Faculty of Medicine and Pharmacy Hassan II University of Casablanca, Casablanca, Morocco. elkadmiri1979@gmail.com.
authors.forename: Nadia
authors.initials: N
authors.lastname: El Kadmiri
authors.affiliation: Laboratory of Medical Genetics and Molecular Pathology, Faculty of Medicine and Pharmacy Hassan II University of Casablanca, Casablanca, Morocco.|Department of Neurology, IBN ROCHD Universitary Hospital, Casablanca, Morocco.
authors.forename: Ilham
authors.initials: I
authors.lastname: Slassi
authors.affiliation: Department of Neurology, IBN ROCHD Universitary Hospital, Casablanca, Morocco.
authors.forename: Hicham
authors.initials: H
authors.lastname: El Otmani
authors.affiliation: Laboratory of Medical Genetics and Molecular Pathology, Faculty of Medicine and Pharmacy Hassan II University of Casablanca, Casablanca, Morocco.
authors.forename: Sellama
authors.initials: S
authors.lastname: Nadifi
mesh_terms: D000818:Animals; D004422:Dystonia Musculorum Deformans / Q000175:diagnosis / Q000453:epidemiology / Q000235:genetics; D020821:Dystonic Disorders / Q000175:diagnosis / Q000453:epidemiology / Q000235:genetics*; D020022:Genetic Predisposition to Disease / Q000453:epidemiology / Q000235:genetics*; D006801:Humans; D009154:Mutation / Q000235:genetics*; D049031:Sarcoglycans / Q000235:genetics
chemical_list: C526572:SGCE protein, human; D049031:Sarcoglycans
keywords: DYT1; DYT11; DYT15; Myoclonus–dystonia; SGCE