DisGeNET5_gene_disease Home  

PubMed:10078749 / 0-24 JSONTXT

GCH1 mutation in a patient with adult-onset oromandibular dystonia. The authors report a mutation in exon 5 of GCH1 in a patient with adult-onset oromandibular dystonia and no obvious family history of dystonia. The patient responded positively to treatment with L-dopa. These findings demonstrate that GCH1 mutations must be considered even in patients with dystonic symptoms not typical of dopa-responsive dystonia.

Annnotations TAB TSV DIC JSON TextAE

  • Denotations: 1
  • Blocks: 0
  • Relations: 0