A new mitochondrial DNA mutation associated with mitochondrial myopathy: tRNA(Leu)(UUR) 3254C-to-G.
We investigated a patient with mitochondrial myopathy accompanied by cardiomyopathy. Molecular analysis disclosed a C-to-G substitution at nucleotide position 3254 of the mitochondrial tRNA(Leu)(UUR). Pedigree analysis revealed that this mutation was inherited maternally. Mutation C3254G may also be a candidate for genetic defects in mitochondrial myopathy.
Kawarai
T
T
Third Department of Internal Medicine, Hiroshima University School of Medicine, Japan.
Kawakami
H
H
Kozuka
K
K
Izumi
Y
Y
Matsuyama
Z
Z
Watanabe
C
C
Kohriyama
T
T
Nakamura
S
S
D000328:Adult; D001483:Base Sequence; D009202:Cardiomyopathies / Q000150:complications; D004272:DNA, Mitochondrial / Q000235:genetics*; D006801:Humans; D008297:Male; D017240:Mitochondrial Myopathies / Q000150:complications / Q000235:genetics* / Q000473:pathology; D008969:Molecular Sequence Data; D009132:Muscles / Q000473:pathology; D010375:Pedigree; D017354:Point Mutation; D012356:RNA, Transfer, Leu / Q000235:genetics*
D004272:DNA, Mitochondrial; D012356:RNA, Transfer, Leu