Mitochondrial encephalomyopathy due to a novel mutation in the tRNAGlu of mitochondrial DNA

J Child Neurol. 2007 Jul;22(7):858-62. doi: 10.1177/0883073807304199.


A 14-year-old boy had exercise intolerance, weakness, ataxia, and lactic acidosis. Because his muscle biopsy showed a mosaic pattern of fibers staining intensely with the succinate dehydrogenase reaction but not at all with the cytochrome c oxidase reaction, we sequenced his mitochondrial DNA and found a novel mutation (C14680A) in the gene for tRNAGlu. The mutation was present in accessible tissues from the asymptomatic mother but not from a brother with Asperger syndrome. These data expand the clinical heterogeneity of mutations in this mitochondrial gene.

Publication types

  • Case Reports

MeSH terms

  • Adolescent
  • Cytochrome-c Oxidase Deficiency / genetics*
  • DNA, Mitochondrial / genetics*
  • Electron Transport Complex IV / metabolism
  • Humans
  • Male
  • Mitochondrial Encephalomyopathies / genetics*
  • Mitochondrial Encephalomyopathies / metabolism
  • Mitochondrial Encephalomyopathies / pathology
  • Muscle, Skeletal / metabolism*
  • Muscle, Skeletal / pathology
  • Mutation
  • Polymorphism, Single Nucleotide
  • RNA, Transfer, Glu / genetics*
  • RNA, Transfer, Glu / metabolism


  • DNA, Mitochondrial
  • RNA, Transfer, Glu
  • Electron Transport Complex IV