DYT1 mutation in Korean primary dystonia patients.
One hundred sixty-two patients with Korean primary dystonia patients were screened for DYT1 mutation. Five patients were positive for DYT1 mutation. Generalized dystonia patients have higher rate of DYT1 mutation (3/7). Their onset age is young (7-20; mean 13.4). Two patients were found to have segmental dystonia. Like Japanese patients with DYT1 mutation, axial muscle involvement is notable.
Department of Neurology, Asan Medical Center, University of Ulsan, Seoul, South Korea.
Joo-Hyuk
JH
Im
Tae-Beom
TB
Ahn
Ki Beom
KB
Kim
Sang-Bae
SB
Ko
Beom S
BS
Jeon
D000293:Adolescent; D000328:Adult; D017668:Age of Onset; D000368:Aged; D004421:Dystonia / Q000453:epidemiology / Q000235:genetics* / Q000503:physiopathology; D005121:Extremities / Q000502:physiology; D005190:Family; D005260:Female; D005787:Gene Frequency; D006579:Heterozygote; D006801:Humans; D007723:Korea / Q000453:epidemiology; D008297:Male; D008875:Middle Aged; D018832:Molecular Chaperones / Q000235:genetics*; D018482:Muscle, Skeletal / Q000503:physiopathology; D009154:Mutation / Q000235:genetics* / Q000502:physiology
D018832:Molecular Chaperones; C108175:TOR1A protein, human