Mutations of the mitochondrial ND1 gene as a cause of MELAS

J Med Genet. 2004 Oct;41(10):784-9. doi: 10.1136/jmg.2004.020537.
No abstract available

Publication types

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

MeSH terms

  • Adolescent
  • Cells, Cultured
  • Child
  • Child, Preschool
  • DNA Mutational Analysis
  • DNA, Mitochondrial / genetics*
  • Electron Transport Complex I / metabolism
  • Female
  • Fibroblasts / metabolism
  • Fibroblasts / pathology
  • Humans
  • MELAS Syndrome / genetics*
  • MELAS Syndrome / metabolism
  • MELAS Syndrome / pathology
  • Male
  • Mitochondria / genetics
  • Mitochondria / metabolism
  • Muscle, Skeletal / metabolism
  • Muscle, Skeletal / pathology
  • Mutation / genetics*
  • NADH Dehydrogenase / genetics*

Substances

  • DNA, Mitochondrial
  • NADH Dehydrogenase
  • Electron Transport Complex I
  • MT-ND1 protein, human