Adult-onset leg dystonia due to a missense mutation in THAP1

Mov Disord. 2010 Jul 15;25(9):1306-7. doi: 10.1002/mds.23086.
No abstract available

Publication types

  • Case Reports
  • Letter
  • Research Support, N.I.H., Extramural

MeSH terms

  • Apoptosis Regulatory Proteins / genetics*
  • DNA-Binding Proteins / genetics*
  • Dystonic Disorders / genetics*
  • Dystonic Disorders / pathology*
  • Humans
  • Leg / physiopathology*
  • Male
  • Middle Aged
  • Mutation, Missense / genetics*
  • Nuclear Proteins / genetics*

Substances

  • Apoptosis Regulatory Proteins
  • DNA-Binding Proteins
  • Nuclear Proteins
  • THAP1 protein, human