Digenic progressive external ophthalmoplegia in a sporadic patient: recessive mutations in POLG and C10orf2/Twinkle

Hum Mutat. 2003 Aug;22(2):175-6. doi: 10.1002/humu.10246.
No abstract available

Publication types

  • Comparative Study
  • Letter

MeSH terms

  • Animals
  • DNA Helicases
  • DNA Polymerase gamma
  • DNA Primase / genetics*
  • DNA, Mitochondrial / genetics
  • DNA-Directed DNA Polymerase / genetics*
  • Drosophila Proteins / genetics
  • Female
  • Genes, Recessive / genetics*
  • Humans
  • Mice
  • Middle Aged
  • Mitochondrial Proteins
  • Mutation / genetics*
  • Ophthalmoplegia, Chronic Progressive External / genetics*
  • Sequence Deletion / genetics

Substances

  • DNA, Mitochondrial
  • Drosophila Proteins
  • Mitochondrial Proteins
  • DNA Primase
  • DNA Polymerase gamma
  • DNA-Directed DNA Polymerase
  • POLG protein, human
  • Polg protein, mouse
  • Twnk protein, mouse
  • DNA Helicases
  • TWNK protein, human