Cytochrome oxidase deficiency: clinical and biochemical heterogeneity

Ann N Y Acad Sci. 1986;488:19-32. doi: 10.1111/j.1749-6632.1986.tb46545.x.
No abstract available

Publication types

  • Research Support, Non-U.S. Gov't
  • Research Support, U.S. Gov't, P.H.S.
  • Review

MeSH terms

  • Adult
  • Cytochrome-c Oxidase Deficiency*
  • DNA, Mitochondrial / genetics
  • Electron Transport Complex IV / genetics
  • Electron Transport Complex IV / immunology
  • Humans
  • Immunochemistry
  • Infant
  • Leigh Disease / enzymology
  • Leigh Disease / genetics
  • Metabolism, Inborn Errors / enzymology*
  • Metabolism, Inborn Errors / genetics
  • Mitochondria / enzymology
  • Muscular Diseases / enzymology
  • Muscular Diseases / genetics
  • Mutation
  • Protein Conformation

Substances

  • DNA, Mitochondrial
  • Electron Transport Complex IV