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.
Im
Joo-Hyuk
JH
Department of Neurology, Asan Medical Center, University of Ulsan, Seoul, South Korea.
Ahn
Tae-Beom
TB
Kim
Ki Beom
KB
Ko
Sang-Bae
SB
Jeon
Beom S
BS
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