title: Investigation of common mitochondrial point mutations in Korea.
abstract: 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.
authors.affiliation: Department of Neurology, Seoul National University Medical Research Center, Clinical Research Institute, Seoul, Korea.
authors.forename: Seon-Joo
authors.initials: SJ
authors.lastname: Kwon
authors.forename: Sung-Sup
authors.initials: SS
authors.lastname: Park
authors.forename: Jong-Min
authors.initials: JM
authors.lastname: Kim
authors.forename: Tae-Beom
authors.initials: TB
authors.lastname: Ahn
authors.forename: Seung Hyun
authors.initials: SH
authors.lastname: Kim
authors.forename: Juhan
authors.initials: J
authors.lastname: Kim
authors.forename: Sung-Hyun
authors.initials: SH
authors.lastname: Lee
authors.forename: Choong-Kun
authors.initials: CK
authors.lastname: Ha
authors.forename: Moo-Young
authors.initials: MY
authors.lastname: Ahn
authors.forename: Beom S
authors.initials: BS
authors.lastname: Jeon
mesh_terms: 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
chemical_list: D004272:DNA, Mitochondrial