Genetic heterogeneity in Leigh syndrome

Ann Neurol. 1996 Jul;40(1):5-7. doi: 10.1002/ana.410400104.
No abstract available

Publication types

  • Case Reports
  • Editorial

MeSH terms

  • Adenosine Triphosphatases / genetics
  • Age of Onset
  • Child
  • Female
  • Genetic Heterogeneity*
  • Humans
  • Leigh Disease / genetics*
  • Leigh Disease / metabolism
  • Male
  • Point Mutation
  • Pyruvate Dehydrogenase Complex / metabolism
  • Pyruvate Dehydrogenase Complex Deficiency Disease
  • Sex Factors
  • Syndrome
  • X Chromosome

Substances

  • Pyruvate Dehydrogenase Complex
  • Adenosine Triphosphatases