A new mutation (Thr106Ile) of the GTP cyclohydrolase 1 gene associated with DYT5 dystonia (Segawa disease)

Mov Disord. 2005 Aug;20(8):1083-4. doi: 10.1002/mds.20490.
No abstract available

Publication types

  • Letter

MeSH terms

  • Adult
  • Child
  • DNA Mutational Analysis / methods
  • Dystonic Disorders / genetics*
  • Exons
  • Female
  • GTP Cyclohydrolase / genetics*
  • Humans
  • Isoleucine / genetics*
  • Mutation*
  • Threonine / genetics*

Substances

  • Isoleucine
  • Threonine
  • GTP Cyclohydrolase