A novel mutation in the mitochondrial tRNA(Phe) gene associated with mitochondrial myopathy

Neuromuscul Disord. 2004 Jan;14(1):46-50. doi: 10.1016/s0960-8966(03)00168-8.


We report a novel heteroplasmic T-->C mutation at nt position 582 within the mitochondrial tRNA(Phe) gene of a 70-year-old woman with mitochondrial myopathy. No other family members were affected, suggesting that our patient was a sporadic case. The muscle showed frequent ragged red fibers and 43% cytochrome c oxidase deficient fibers. The mutation alters a conserved base pairing in the aminoacyl acceptor stem. The mutation load was 70% in muscle homogenate and varied from 0 to 95% in individual muscle fiber segments. Cytochrome c oxidase-negative fibers showed significantly higher levels of mutated mtDNA (>75%) than Cytochrome c oxidase-positive fibers (<55%). This mutation adds to the previously described four pathogenic mutations in the tRNA(Phe) gene.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Aged
  • Amino Acid Substitution / genetics
  • Amino Acyl-tRNA Synthetases / genetics
  • Cell Respiration / genetics
  • DNA Mutational Analysis
  • DNA, Mitochondrial / genetics*
  • Electron Transport Complex IV / metabolism
  • Female
  • Humans
  • Mitochondria / genetics*
  • Mitochondria / metabolism
  • Mitochondrial Myopathies / diagnosis
  • Mitochondrial Myopathies / genetics*
  • Mitochondrial Myopathies / pathology
  • Muscle, Skeletal / metabolism*
  • Muscle, Skeletal / pathology
  • Point Mutation / genetics*
  • RNA, Transfer, Phe / genetics*
  • Sequence Homology, Nucleic Acid


  • DNA, Mitochondrial
  • RNA, Transfer, Phe
  • Electron Transport Complex IV
  • Amino Acyl-tRNA Synthetases