PubmedHPO  

PubMed:10078749 / 392-416 JSONTXT 3 Projects

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.

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