MELAS associated with a mutation in the valine transfer RNA gene of mitochondrial DNA

Ann Neurol. 1996 Sep;40(3):459-62. doi: 10.1002/ana.410400318.


We describe a patient with the mitochondrial myopathy, encephalopathy, lactic acidosis, and strokelike episodes (MELAS) phenotype in whom initial investigations in skeletal muscle failed to show any histochemical or biochemical defect. Subsequent analysis of the mitochondrial genome identified a new heteroplasmic mutation in the valine transfer RNA gene, the first described in this region.

Publication types

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

MeSH terms

  • Adolescent
  • Base Sequence
  • DNA, Mitochondrial / genetics*
  • Genes*
  • Humans
  • MELAS Syndrome / genetics*
  • Male
  • Molecular Sequence Data
  • Phenotype
  • Point Mutation
  • RNA, Transfer / genetics*
  • Valine / genetics*


  • DNA, Mitochondrial
  • RNA, Transfer
  • Valine