%0 Journal Article
%T Hereditary Myoclonus Dystonia: A Novel SGCE Variant and Phenotype Including Intellectual Disability
%A Andres Deik
%A David G. Coughlin
%A Meredith Spindler
%A Tanya M. Bardakjian
%J Archive of "Tremor and Other Hyperkinetic Movements".
%D 2018
%R 10.7916/D8J11FRZ
%X 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
%K DYT11
%K intellectual disability
%K myoclonus dystonia
%K SGCE
%K sarcoglycan
%U https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5876472/