Adult-onset leg dystonia due to a missense mutation in THAP1.
Van Gerpen
Jay A
JA
Ledoux
Mark S
MS
Wszolek
Zbigniew K
ZK
D051017:Apoptosis Regulatory Proteins / Q000235:genetics*; D004268:DNA-Binding Proteins / Q000235:genetics*; D020821:Dystonic Disorders / Q000235:genetics* / Q000473:pathology*; D006801:Humans; D007866:Leg / Q000503:physiopathology*; D008297:Male; D008875:Middle Aged; D020125:Mutation, Missense / Q000235:genetics*; D009687:Nuclear Proteins / Q000235:genetics*
D051017:Apoptosis Regulatory Proteins; D004268:DNA-Binding Proteins; D009687:Nuclear Proteins; C474080:THAP1 protein, human