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:...

Descrición completa

Gardado en:
Detalles Bibliográficos
Publicado en:Tremor Other Hyperkinet Mov (N Y)
Main Authors: Coughlin, David G., Bardakjian, Tanya M., Spindler, Meredith, Deik, Andres
Formato: Artigo
Idioma:Inglês
Publicado: Columbia University Libraries/Information Services 2018
Assuntos:
Acceso en liña: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
Tags: Engadir etiqueta
Sen Etiquetas, Sexa o primeiro en etiquetar este rexistro!