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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Detalles Bibliográficos
Autores principales: Coughlin, David G., Bardakjian, Tanya M., Spindler, Meredith, Deik, Andres
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Columbia University Libraries/Information Services 2018
Materias:
Case Reports
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

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5876472/
https://www.ncbi.nlm.nih.gov/pubmed/29607243
http://dx.doi.org/10.7916/D8J11FRZ

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