The D216H variant in the DYT1 gene: a susceptibility factor for dystonia in familial cases?

Neurology. 2009 Apr 21;72(16):1441-3. doi: 10.1212/WNL.0b013e3181a1861e.
No abstract available

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Aged
  • Blepharospasm / genetics
  • Blepharospasm / metabolism
  • Blepharospasm / physiopathology
  • DNA Mutational Analysis
  • Dystonia / genetics*
  • Dystonia / metabolism
  • Dystonia / physiopathology
  • Dystonic Disorders / genetics
  • Dystonic Disorders / metabolism
  • Dystonic Disorders / physiopathology
  • Family Health
  • Female
  • Gene Frequency / genetics
  • Genetic Predisposition to Disease / genetics*
  • Genetic Testing
  • Genetic Variation / genetics
  • Genotype
  • Germany
  • Humans
  • Male
  • Middle Aged
  • Molecular Chaperones / genetics*
  • Penetrance
  • Polymorphism, Genetic / genetics*
  • Torticollis / genetics
  • Torticollis / metabolism
  • Torticollis / physiopathology

Substances

  • Molecular Chaperones
  • TOR1A protein, human