Article
Phenotype of the DYT1 mutation in the TOR1A gene in a Polish population of patients with dystonia. A preliminary report.
Neurologia i neurochirurgia polska - 1 Jan 2000
Gajos Agata, Piaskowski Sylwester, Sławek Jarosław, Ochudło Stanisław, Opala Grzegorz, Łobińska Alicja, Honczarenko Krystyna, Budrewicz Sławomir, Koszewicz Magdalena, Pełszyńska Barbara, Liberski Paweł P, Bogucki Andrzej
Abstract excerpt
BACKGROUND AND PURPOSE: DYT1 dystonia is the most common form of inherited primary dystonia. The aim of the study was: 1) to evaluate the prevalence of the DYT1 mutation in a population of Polish patients with early-onset generalized dystonia and with other forms of familial dystonia, 2) to evaluate the frequency of the DYT1 mutation in patients with writer's cramp, 3) to characterize the phenotype of the DYT1...
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