GCH1 mutation in a patient with adult-onset oromandibular dystonia.
Neurology
; 52(4): 877-9, 1999 Mar 10.
Article
em En
| MEDLINE
| ID: mdl-10078749
ABSTRACT
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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Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Distonia
/
GTP Cicloidrolase
/
Mandíbula
/
Boca
/
Mutação
Limite:
Female
/
Humans
/
Middle aged
Idioma:
En
Revista:
Neurology
Ano de publicação:
1999
Tipo de documento:
Article
País de afiliação:
Alemanha