Atypical Leigh syndrome associated with the D393N mutation in the mitochondrial ND5 subunit

Neurology. 2003 Oct 14;61(7):1017-8. doi: 10.1212/01.wnl.0000080363.10902.e9.
No abstract available

Publication types

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

MeSH terms

  • Amino Acid Substitution
  • Brain / pathology
  • Child, Preschool
  • DNA Mutational Analysis
  • Disease Progression
  • Electron Transport Complex I / genetics*
  • Humans
  • Italy
  • Leigh Disease / diagnosis
  • Leigh Disease / enzymology
  • Leigh Disease / genetics*
  • Magnetic Resonance Imaging
  • Male
  • Mitochondria / enzymology*
  • Mitochondria / genetics
  • Mitochondrial Proteins
  • Mutation*
  • Protein Subunits / genetics

Substances

  • Mitochondrial Proteins
  • Protein Subunits
  • MT-ND5 protein, human
  • Electron Transport Complex I