A case of primary torsion dystonia in Japan with the 3-bp (GAG) deletion in the DYT1 gene with a unique clinical presentation.
Ikeuchi
T
T
Shimohata
T
T
Nakano
R
R
Koide
R
R
Takano
H
H
Tsuji
S
S
D000328:Adult; D002352:Carrier Proteins / Q000235:genetics*; D004422:Dystonia Musculorum Deformans / Q000175:diagnosis* / Q000235:genetics*; D017353:Gene Deletion; D006801:Humans; D007564:Japan; D008297:Male; D018832:Molecular Chaperones
D002352:Carrier Proteins; D018832:Molecular Chaperones; C108175:TOR1A protein, human