PubMed:10078749 JSONTXT

{"target":"https://pubannotation.org/docs/sourcedb/PubMed/sourceid/10078749","sourcedb":"PubMed","sourceid":"10078749","source_url":"http://www.ncbi.nlm.nih.gov/pubmed/10078749","text":"GCH1 mutation in a patient with adult-onset oromandibular dystonia.\nThe 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 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