A T-->C mutation at nt 8993 of mitochondrial DNA in a child with Leigh syndrome

Neurology. 1994 May;44(5):972-4. doi: 10.1212/wnl.44.5.972.


A 5-year-old child with clinical and radiologic evidence of Leigh syndrome (LS) showed a T-->C mutation at position nt 8993 in the mitochondrial DNA (instead of the more common T-->G substitution), resulting in an amino acid change from a highly conserved leucine to proline in subunit 6 of mitochondrial ATPase. The mutation was heteroplasmic and maternally inherited, and was present in high percentages in multiple tissues. This finding documents genetic heterogeneity of the ATPase 6 gene mutation associated with LS.

Publication types

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

MeSH terms

  • Adenosine Triphosphatases / genetics
  • Base Sequence
  • Child, Preschool
  • DNA, Mitochondrial / genetics*
  • Humans
  • Leigh Disease / genetics*
  • Male
  • Molecular Sequence Data
  • Mutation


  • DNA, Mitochondrial
  • Adenosine Triphosphatases