A new mitochondrial DNA mutation associated with mitochondrial myopathy: tRNALeu(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.