title: Hereditary myoclonus dystonia (DYT11): a novel SGCE gene mutation with intrafamilial phenotypic heterogeneity.
authors.forename: Sui H
authors.initials: SH
authors.lastname: Wong
authors.forename: Malcolm J
authors.initials: MJ
authors.lastname: Steiger
authors.forename: Andrew J
authors.initials: AJ
authors.lastname: Larner
authors.forename: Nicholas A
authors.initials: NA
authors.lastname: Fletcher
mesh_terms: 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*
chemical_list: C526572:SGCE protein, human; D049031:Sarcoglycans