|
rdf:type |
|
|
lifeskim:mentions |
|
|
pubmed:issue |
4
|
|
pubmed:dateCreated |
1999-4-30
|
|
pubmed:abstractText |
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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|
pubmed:language |
eng
|
|
pubmed:journal |
|
|
pubmed:citationSubset |
AIM
|
|
pubmed:chemical |
|
|
pubmed:status |
MEDLINE
|
|
pubmed:month |
Mar
|
|
pubmed:issn |
0028-3878
|
|
pubmed:author |
|
|
pubmed:issnType |
Print
|
|
pubmed:day |
10
|
|
pubmed:volume |
52
|
|
pubmed:owner |
NLM
|
|
pubmed:authorsComplete |
Y
|
|
pubmed:pagination |
877-9
|
|
pubmed:dateRevised |
2004-11-17
|
|
pubmed:meshHeading |
pubmed-meshheading:10078749-Age of Onset,
pubmed-meshheading:10078749-DNA,
pubmed-meshheading:10078749-Dystonia,
pubmed-meshheading:10078749-Exons,
pubmed-meshheading:10078749-Female,
pubmed-meshheading:10078749-GTP Cyclohydrolase,
pubmed-meshheading:10078749-Humans,
pubmed-meshheading:10078749-Mandible,
pubmed-meshheading:10078749-Middle Aged,
pubmed-meshheading:10078749-Mouth,
pubmed-meshheading:10078749-Mutation,
pubmed-meshheading:10078749-Polymorphism, Single-Stranded Conformational
|
|
pubmed:year |
1999
|
|
pubmed:articleTitle |
GCH1 mutation in a patient with adult-onset oromandibular dystonia.
|
|
pubmed:affiliation |
Institut für Humangenetik, Justus-Liebig-Universität, Giessen, Germany.
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|
pubmed:publicationType |
Journal Article,
Case Reports
|
