A new mitochondrial DNA mutation associated with mitochondrial myopathy: tRNA(Leu)(UUR) 3254C-to-G.
case_report · Level V
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Abstract
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.
Medical subject headings
- DNA, Mitochondrial
- Mitochondrial Myopathies
- Point Mutation
- RNA, Transfer, Leu