Clinical and molecular findings in four new patients harbouring the mtDNA 8993T>C mutation

J Inherit Metab Dis. 2001 Dec;24(8):883-4. doi: 10.1023/a:1013908728445.
No abstract available

Publication types

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

MeSH terms

  • Adenosine Triphosphatases / genetics*
  • Adenosine Triphosphate / biosynthesis
  • Adolescent
  • Adult
  • DNA, Mitochondrial / genetics*
  • Energy Metabolism / genetics
  • Female
  • Humans
  • Leigh Disease / enzymology*
  • Leigh Disease / genetics*
  • Leigh Disease / metabolism
  • Male
  • Membrane Potentials / genetics
  • Point Mutation*

Substances

  • DNA, Mitochondrial
  • Adenosine Triphosphate
  • Adenosine Triphosphatases