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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 REPORT:...
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| Publicado no: | Tremor Other Hyperkinet Mov (N Y) |
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| Main Authors: | , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
Columbia University Libraries/Information Services
2018
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC5876472/ https://ncbi.nlm.nih.gov/pubmed/29607243 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.7916/D8J11FRZ |
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