A novel mutation in GCH-1 gene in a case of dopa-responsive dystonia

J Neurol. 2007 Aug;254(8):1133-4. doi: 10.1007/s00415-006-0475-6. Epub 2007 Apr 6.
No abstract available

Publication types

  • Case Reports
  • Letter

MeSH terms

  • Adolescent
  • DNA Mutational Analysis / methods
  • Dihydroxyphenylalanine / therapeutic use
  • Dopamine Agents / therapeutic use
  • Dystonia / drug therapy
  • Dystonia / genetics*
  • Family Health
  • Female
  • GTP Cyclohydrolase / genetics*
  • Glutamine / genetics
  • Histidine / genetics
  • Humans
  • Mutation*

Substances

  • Dopamine Agents
  • Glutamine
  • Histidine
  • Dihydroxyphenylalanine
  • GTP Cyclohydrolase