Mitochondrial DNA 8993 T > C mutation presenting as juvenile Leigh syndrome with respiratory failure

J Child Neurol. 1998 Jul;13(7):349-51. doi: 10.1177/088307389801300709.
No abstract available

Publication types

  • Case Reports

MeSH terms

  • Adenosine Triphosphatases / genetics
  • Adolescent
  • Brain / pathology
  • DNA Mutational Analysis*
  • DNA, Mitochondrial / genetics*
  • Humans
  • Leigh Disease / diagnosis
  • Leigh Disease / genetics*
  • Magnetic Resonance Imaging
  • Male
  • Mutation, Missense / genetics
  • Pedigree
  • Respiratory Insufficiency / diagnosis
  • Respiratory Insufficiency / genetics*

Substances

  • DNA, Mitochondrial
  • Adenosine Triphosphatases