Childhood onset mitochondrial myopathy and lactic acidosis caused by a stop mutation in the mitochondrial cytochrome c oxidase III gene

J Med Genet. 2002 Nov;39(11):812-6. doi: 10.1136/jmg.39.11.812.
No abstract available

Publication types

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

MeSH terms

  • Acidosis, Lactic / enzymology
  • Acidosis, Lactic / genetics*
  • Acidosis, Lactic / pathology
  • Adolescent
  • Age of Onset
  • Child
  • Codon, Terminator / genetics*
  • DNA Mutational Analysis
  • DNA, Mitochondrial / chemistry
  • DNA, Mitochondrial / genetics
  • Electron Transport Complex IV / genetics*
  • Humans
  • Male
  • Mitochondrial Myopathies / enzymology
  • Mitochondrial Myopathies / genetics*
  • Mitochondrial Myopathies / pathology
  • Mutation

Substances

  • Codon, Terminator
  • DNA, Mitochondrial
  • Electron Transport Complex IV