Functional and genetic studies demonstrate that mutation in the COX15 gene can cause Leigh syndrome

J Med Genet. 2004 Jul;41(7):540-4. doi: 10.1136/jmg.2003.017426.
No abstract available

Publication types

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

MeSH terms

  • Cells, Cultured
  • Cytochrome-c Oxidase Deficiency / complications
  • Cytochrome-c Oxidase Deficiency / genetics
  • DNA Mutational Analysis / methods
  • Fibroblasts / enzymology
  • Fibroblasts / pathology
  • Fibroblasts / virology
  • Genetic Complementation Test / methods
  • Genetic Vectors / genetics
  • Humans
  • Infant
  • Leigh Disease / etiology*
  • Leigh Disease / genetics*
  • Male
  • Membrane Proteins / genetics*
  • Membrane Proteins / physiology*
  • Mutation / genetics*
  • Retroviridae / genetics
  • Saccharomyces cerevisiae Proteins / genetics*
  • Saccharomyces cerevisiae Proteins / physiology*
  • Sequence Homology, Nucleic Acid
  • Skin / pathology
  • Transfection / methods

Substances

  • COX15 protein, S cerevisiae
  • Membrane Proteins
  • Saccharomyces cerevisiae Proteins