Investigation of common mitochondrial point mutations in Korea.
Between 1997 and 2002, 65 patients with suspected mitochondrial diseases were screened for the mitochondrial point mutations A3243G, T3271C, A8344G, and T8356C. Among these patients, 15 were found to have one of these mutations: 12 with A3243G and 3 with A8344G. The phenotypes of A3243G and A8344G mutations were MELAS and MERRF, respectively. Many asymptomatic family members had the same mutations. In this report, detailed clinical and laboratory findings are presented.
Kwon
Seon-Joo
SJ
Department of Neurology, Seoul National University Medical Research Center, Clinical Research Institute, Seoul, Korea.
Park
Sung-Sup
SS
Kim
Jong-Min
JM
Ahn
Tae-Beom
TB
Kim
Seung Hyun
SH
Kim
Juhan
J
Lee
Sung-Hyun
SH
Ha
Choong-Kun
CK
Ahn
Moo-Young
MY
Jeon
Beom S
BS
D000293:Adolescent; D000328:Adult; D001706:Biopsy; D002648:Child; D002675:Child, Preschool; D004272:DNA, Mitochondrial / Q000032:analysis / Q000235:genetics*; D005260:Female; D006801:Humans; D007723:Korea; D017241:MELAS Syndrome / Q000175:diagnosis / Q000235:genetics* / Q000473:pathology; D017243:MERRF Syndrome / Q000175:diagnosis / Q000235:genetics* / Q000473:pathology; D008297:Male; D008875:Middle Aged; D018482:Muscle, Skeletal / Q000166:cytology / Q000378:metabolism / Q000473:pathology; D017354:Point Mutation
D004272:DNA, Mitochondrial