An Inversion Affecting the GCH1 Gene as a Novel Finding in Dopa-Responsive Dystonia

Mov Disord Clin Pract. 2024 May;11(5):582-585. doi: 10.1002/mdc3.14023. Epub 2024 Mar 18.
No abstract available

Keywords: GCH1; dopamine responsive dystonia; inversion; optical genome mapping; structural variants; whole genome sequencing.

Publication types

  • Case Reports
  • Letter

MeSH terms

  • Adult
  • Dystonic Disorders* / drug therapy
  • Dystonic Disorders* / genetics
  • Female
  • GTP Cyclohydrolase* / genetics
  • Humans
  • Male

Substances

  • GTP Cyclohydrolase
  • GCH1 protein, human

Supplementary concepts

  • Dystonia, Dopa-responsive