A novel mutation (c.64_65delGGinsAACC [p.G21fsX66]) in the GTP cyclohydrolase 1 gene that causes Segawa disease

J Neurol Neurosurg Psychiatry. 2008 Feb;79(2):229. doi: 10.1136/jnnp.2007.130849.
No abstract available

Publication types

  • Case Reports
  • Letter

MeSH terms

  • Adult
  • Base Composition / genetics
  • Biopterins / analogs & derivatives
  • Biopterins / cerebrospinal fluid
  • Biopterins / deficiency
  • Chromosome Aberrations
  • Chromosome Deletion
  • DNA Mutational Analysis*
  • Dopamine / cerebrospinal fluid
  • Dystonic Disorders / diagnosis
  • Dystonic Disorders / genetics*
  • Exons / genetics
  • Female
  • Fibroblasts / metabolism
  • Frameshift Mutation
  • GTP Cyclohydrolase / genetics*
  • Genes, Dominant / genetics
  • Guanine Nucleotides / genetics
  • Heterozygote
  • Humans
  • Mutagenesis, Insertional
  • Neopterin / cerebrospinal fluid
  • Sequence Analysis, DNA
  • Sequence Analysis, Protein
  • Serotonin / cerebrospinal fluid

Substances

  • Guanine Nucleotides
  • Biopterins
  • Serotonin
  • Neopterin
  • GTP Cyclohydrolase
  • sapropterin
  • Dopamine