Neurodegenerative Parkinsonism and progressive external ophthalmoplegia with a Twinkle mutation

Mov Disord. 2009 Jan 30;24(2):308-9. doi: 10.1002/mds.22198.
No abstract available

Publication types

  • Case Reports
  • Letter

MeSH terms

  • Amino Acid Substitution
  • Blepharoptosis / genetics
  • Carbon Radioisotopes
  • DNA Helicases / genetics*
  • Female
  • Genes, Mitochondrial
  • Humans
  • Iodine Radioisotopes
  • Male
  • Middle Aged
  • Mitochondrial Proteins
  • Mutation, Missense*
  • Ophthalmoplegia, Chronic Progressive External / diagnostic imaging
  • Ophthalmoplegia, Chronic Progressive External / genetics*
  • Parkinsonian Disorders / diagnostic imaging
  • Parkinsonian Disorders / genetics*
  • Pedigree
  • Point Mutation*
  • Positron-Emission Tomography
  • Putamen / diagnostic imaging
  • Tremor / genetics
  • Tropanes

Substances

  • Carbon Radioisotopes
  • Iodine Radioisotopes
  • Mitochondrial Proteins
  • Tropanes
  • 2-carbomethoxy-8-(3-fluoropropyl)-3-(4-iodophenyl)tropane
  • DNA Helicases
  • TWNK protein, human