David G Coughlin Tanya M Bardakjian Meredith Spindler Andres Deik
10.7916/D8J11FRZ
Tremor Other Hyperkinet Mov (N Y)
2018 Mar 28;8:547.
dyt11 sgce intellectual disability myoclonus dystonia sarcoglycan
CC BY-NC-ND
https://pubmed.ncbi.nlm.nih.gov/29607243/
Dystonic Disorders / genetics Dystonic Disorders / physiopathology Sarcoglycans / genetics
Dystonic Disorders / genetics Dystonic Disorders / physiopathology Sarcoglycans / genetics Case Reports Video-Audio Media Dystonic Disorders / therapy Female Genetic Variation Humans Intellectual Disability / genetics Intellectual Disability / physiopathology Phenotype Young Adult SGCE protein, human Sarcoglycans Myoclonic dystonia
PMC5876472
29607243
Hereditary Myoclonus Dystonia: A Novel SGCE Variant and Phenotype Including Intellectual Disability
2018