Leigh syndrome transmitted by uniparental disomy of chromosome 9

J Med Genet. 1999 Dec;36(12):927-8.
No abstract available

Publication types

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

MeSH terms

  • Aneuploidy*
  • Chromosomes, Human, Pair 9*
  • Electron Transport Complex IV / genetics
  • Humans
  • Karyotyping
  • Leigh Disease / genetics*
  • Membrane Proteins
  • Mitochondrial Proteins
  • Mutation
  • Pedigree
  • Proteins / genetics*

Substances

  • Membrane Proteins
  • Mitochondrial Proteins
  • Proteins
  • Surf-1 protein
  • Electron Transport Complex IV