A family with Leigh syndrome caused by the rarer T8993C mutation

J Inherit Metab Dis. 1998 Aug;21(6):685-6. doi: 10.1023/a:1005401121344.
No abstract available

Publication types

  • Case Reports

MeSH terms

  • Cytosine
  • DNA, Mitochondrial / genetics
  • Humans
  • Infant
  • Leigh Disease / etiology
  • Leigh Disease / genetics*
  • Male
  • Point Mutation*
  • Proton-Translocating ATPases / genetics
  • Thymine

Substances

  • DNA, Mitochondrial
  • Cytosine
  • Proton-Translocating ATPases
  • Thymine