Severe myoclonus-dystonia syndrome associated with a novel epsilon-sarcoglycan gene truncating mutation
| Autor: | Dominique Campion, Emmanuelle Deslandre, G Raux, Guillaume Lefebvre, Lucie Maréchal, Dominique Parain, Thierry Frebourg, Carole Girard, Cécile Dumanchin, Didier Hannequin |
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| Rok vydání: | 2003 |
| Předmět: |
Dystonia
Genetics congenital hereditary and neonatal diseases and abnormalities Mutation medicine.medical_specialty Neurological disorder Biology medicine.disease_cause medicine.disease Phenotype Cellular and Molecular Neuroscience Psychiatry and Mental health Exon Endocrinology SGCE hemic and lymphatic diseases Internal medicine medicine medicine.symptom Myoclonus Genetics (clinical) Dystonic disorder |
| Zdroj: | American Journal of Medical Genetics Part B: Neuropsychiatric Genetics. :114-117 |
| ISSN: | 1552-4841 |
| DOI: | 10.1002/ajmg.b.10062 |
| Popis: | 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 phenotype, including myoclonus with important functional impact and several psychiatric features, characterized by obsessive-compulsive disorder, depression, and anxiety. This phenotype was shown to be associated with a novel truncating mutation located within exon 4 of SGCE. |
| Databáze: | OpenAIRE |
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