Article
Expression profiling in peripheral blood reveals signature for penetrance in DYT1 dystonia.
Neurobiology of disease - 1 May 2010
Walter M, Bonin M, Pullman R Saunders, Valente E M, Loi M, Gambarin M, Raymond D, Tinazzi M, Kamm C, Glöckle N, Poths S, Gasser T, Bressman S B, Klein C, Ozelius L J, Riess O, Grundmann K
Abstract excerpt
DYT1 dystonia is an autosomal-dominantly inherited movement disorder, which is usually caused by a GAG deletion in the TOR1A gene. Due to the reduced penetrance of approximately 30-40%, the determination of the mutation in a subject is of limited use with regard to actual manifestation of symptom...
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