The V368i mutation in Twinkle does not segregate with AdPEO

Ann Neurol. 2003 Feb;53(2):278. doi: 10.1002/ana.10430.
No abstract available

Publication types

  • Letter

MeSH terms

  • DNA Helicases
  • DNA Primase / genetics*
  • Genes, Dominant
  • Genetic Linkage
  • Humans
  • Mitochondrial Proteins
  • Mutation, Missense*
  • Ophthalmoplegia, Chronic Progressive External / genetics*

Substances

  • Mitochondrial Proteins
  • DNA Primase
  • DNA Helicases
  • TWNK protein, human

Associated data

  • OMIM/157640