Hereditary Myoclonus Dystonia: A Novel SGCE Variant and Phenotype Including Intellectual Disability
Background: Hereditary myoclonus dystonia is often due to changes in the SGCE gene. Dystonia (DYT)-SGCE has a variable phenotype that can involve focal or generalized myoclonus and various forms of task-specific, segmental, or generalized dystonia. Psychiatric comorbidities are common. Case Repor...
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| Autors principals: | , , , |
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| Format: | Artigo |
| Idioma: | Inglês |
| Publicat: |
Ubiquity Press
2018-03-01
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| Col·lecció: | Tremor and Other Hyperkinetic Movements |
| Matèries: | |
| Accés en línia: | https://tremorjournal.org/index.php/tremor/article/view/547 |
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