Article
Severe myoclonus-dystonia syndrome associated with a novel epsilon-sarcoglycan gene truncating mutation.
American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics - 15 May 2003
Maréchal Lucie, Raux Grégory, Dumanchin Cécile, Lefebvre Guillaume, Deslandre Emmanuelle, Girard Carole, Campion Dominique, Parain Dominique, Frebourg Thierry, Hannequin Didier
Abstract excerpt
Myoclonus-dystonia syndrome (MDS) is an autosomal dominant disorder characterized by myoclonic and dystonic muscle contractions, associated with psychiatric manifestations. MDS is usually considered as a benign disease. In most of the families, MDS is linked to chromosome 7q21 and mutations within epsilon-sarcoglycan (SGCE) gene have been recently described. We report a MDS family with a severe and heterogeneous...
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