Mitochondrial G8363A mutation presenting as cerebellar ataxia and lipomas in an Italian family

Neurology. 1999 Mar 23;52(5):1103-4. doi: 10.1212/wnl.52.5.1103.
No abstract available

Publication types

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

MeSH terms

  • Adult
  • Cerebellar Ataxia / genetics*
  • DNA, Mitochondrial / genetics*
  • Female
  • Humans
  • Italy
  • Lipoma / genetics*
  • Male
  • Middle Aged
  • Mutation*
  • Pedigree
  • Phenotype
  • Skin Neoplasms / genetics*

Substances

  • DNA, Mitochondrial

Grant support