Maternally inherited Leigh syndrome

J Pediatr. 1993 Mar;122(3):419-22. doi: 10.1016/s0022-3476(05)83431-6.


A 6 1/2-year-old girl had developmental regression, and Leigh syndrome was diagnosed. A second girl born to the same mother after heterologous artificial insemination also lost acquired skills and died at 2 1/2 years of age; neuropathologic examination confirmed the diagnosis of Leigh syndrome. Tissues from both children and from the mother had a point mutation at nucleotide 8993 in the adenosinetriphosphatase 6-gene of mitochondrial DNA. This family illustrates that Leigh syndrome can be transmitted by maternal inheritance.

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
  • Child
  • DNA, Mitochondrial / genetics*
  • Female
  • Humans
  • Leigh Disease / genetics*
  • Point Mutation / genetics*
  • Polymerase Chain Reaction
  • Polymorphism, Restriction Fragment Length


  • DNA, Mitochondrial
  • Adenosine Triphosphatases