Genetic analysis of IMPDH2 gene in Taiwanese patients with isolated or combined dystonia.
Parkinsonism Relat Disord
; 107: 105294, 2023 02.
Article
em En
| MEDLINE
| ID: mdl-36657279
ABSTRACT
The inosine monophosphate dehydrogenase gene (IMPDH2) was recently reported as a novel gene associated with autosomal dominantly inherited dystonia. We investigated 245 Taiwanese patients with molecularly unassigned isolated or combined dystonia without features of neurodevelopmental disorders and found none had pathogenic variants. Our findings suggest that IMPDH2 may not play a major role in dystonia.
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Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Distonia
Limite:
Humans
Idioma:
En
Revista:
Parkinsonism Relat Disord
Assunto da revista:
NEUROLOGIA
Ano de publicação:
2023
Tipo de documento:
Article
País de afiliação:
Taiwan