A novel pathological mutation of tyrosine hydroxylase gene in dopa-responsive dystonia / 中华神经科杂志
Chinese Journal of Neurology
;
(12): 808-812, 2018.
Article
Dans Chinois
| WPRIM
| ID: wpr-711028
ABSTRACT
Objective To explore the clinical characteristics and gene mutation in a patient clinically diagnosed as dopa-responsive dystonia (DRD) without family history.Methods The clinical characteristics of a patient clinically diagnosed as DRD without family history were collected and molecular and bioinformatic analyses were performed.Results The patient demonstrated as type A tyrosine hydroxylase deficiency and a compound heterozygous mutation of tyrosine hydroxylase (TH) gene was found,including a known nonsense mutation,c.457C>T and a novel missense mutation,c.734G>T that was probably pathologically predicted by bioinformatic analysis.Conclusion c.734G>T may be a novel pathological mutation of TH gene.
Texte intégral:
Disponible
Indice:
WPRIM (Pacifique occidental)
Type d'étude:
Étude pronostique
langue:
Chinois
Texte intégral:
Chinese Journal of Neurology
Année:
2018
Type:
Article
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