Singular DYT6 phenotypes in association with new THAP1 frameshift mutations

Mov Disord. 2011 Aug 1;26(9):1775-7. doi: 10.1002/mds.23641. Epub 2011 Apr 25.
No abstract available

Publication types

  • Case Reports
  • Letter
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Apoptosis Regulatory Proteins / genetics*
  • DNA-Binding Proteins / genetics*
  • Dystonia Musculorum Deformans / genetics*
  • Dystonia Musculorum Deformans / physiopathology
  • Female
  • Frameshift Mutation / genetics*
  • Humans
  • Male
  • Middle Aged
  • Nuclear Proteins / genetics*
  • Phenotype

Substances

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

Supplementary concepts

  • Dystonia 6, torsion