Leigh disease caused by the mitochondrial DNA G14459A mutation in unrelated families

Ann Neurol. 2000 Jul;48(1):102-4.


Leigh disease can be caused by defects of both nuclear and mitochondrially encoded genes. One mitochondrial DNA mutation, G14459A, has been associated with both respiratory chain complex I deficiency and Leber's hereditary optic neuropathy, with or without dystonia. Here, we report the occurrence of this mutation in 3 complex I-deficient patients from 2 separate pedigrees who presented with Leigh disease, with no evidence or family history of Leber's hereditary optic neuropathy or dystonia.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adolescent
  • Child
  • DNA, Mitochondrial / genetics*
  • Female
  • Humans
  • Infant
  • Leigh Disease / etiology*
  • Leigh Disease / genetics*
  • Male
  • NADH, NADPH Oxidoreductases / genetics
  • Point Mutation / genetics


  • DNA, Mitochondrial
  • NADH, NADPH Oxidoreductases