Leigh syndrome resulting from de novo mutation at position 8993 of mitochondrial DNA

J Inherit Metab Dis. 1997 Mar;20(1):102-3. doi: 10.1023/a:1005378011157.
No abstract available

Publication types

  • Case Reports

MeSH terms

  • DNA, Mitochondrial*
  • Fatal Outcome
  • Guanine
  • Humans
  • Infant, Newborn
  • Leigh Disease / enzymology
  • Leigh Disease / genetics*
  • Leigh Disease / mortality
  • Male
  • Point Mutation*
  • Proton-Translocating ATPases / genetics
  • Syndrome
  • Thymine

Substances

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