Article
Earlier onset of motor deficits in mice with double mutations in Dyt1 and Sgce.
Journal of biochemistry - 1 Oct 2010
Yokoi Fumiaki, Yang Guang, Li Jindong, DeAndrade Mark P, Zhou Tong, Li Yuqing
Abstract excerpt
DYT1 early-onset generalized torsion dystonia is an inherited movement disorder caused by mutations in DYT1 coding for torsinA with ∼30% penetrance. Most of the DYT1 dystonia patients exhibit symptoms during childhood and adolescence. On the other hand, DYT1 mutation carriers without symptoms during these periods mostly do not exhibit symptoms later in their life. Little is known about what controls the timing of...
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