Early-onset primary torsional dystonia in a 4-generation Chinese family with a mutation in the DYT1 gene.
Yeung
Wai Lan
WL
Department of Paediatrics, Prince of Wales Hospital, The Chinese University of Hong Kong, Hong Kong, China. wailanyeung@cuhk.edu.hk
Lam
Ching Wan
CW
Cheng
Wai Tsoi
WT
Sin
Ngai Chuen
NC
Wong
Wing Kin
WK
Wong
Chun Nei
CN
Tse
Ka Ming
KM
Fok
Tai Fai
TF
D002648:Child; D004422:Dystonia Musculorum Deformans / Q000000981:diagnostic imaging / Q000188:drug therapy / Q000235:genetics*; D005260:Female; D006801:Humans; D008297:Male; D018832:Molecular Chaperones / Q000235:genetics*; D009154:Mutation; D010375:Pedigree; D049268:Positron-Emission Tomography
D018832:Molecular Chaperones; C108175:TOR1A protein, human