Hereditary myoclonus dystonia (DYT11): a novel SGCE gene mutation with intrafamilial phenotypic heterogeneity.
Wong
Sui H
SH
Steiger
Malcolm J
MJ
Larner
Andrew J
AJ
Fletcher
Nicholas A
NA
D000328:Adult; D004421:Dystonia / Q000150:complications* / Q000235:genetics*; D018740:Genetic Heterogeneity; D006801:Humans; D008297:Male; D008875:Middle Aged; D009207:Myoclonus / Q000150:complications* / Q000235:genetics*; D010375:Pedigree; D010641:Phenotype; D017354:Point Mutation / Q000235:genetics*; D049031:Sarcoglycans / Q000235:genetics*
C526572:SGCE protein, human; D049031:Sarcoglycans