Cargando…
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:...
| Autores principales: | , , , |
|---|---|
| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Columbia University Libraries/Information Services
2018
|
| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5876472/ https://www.ncbi.nlm.nih.gov/pubmed/29607243 http://dx.doi.org/10.7916/D8J11FRZ |