Article
High variability of clinical symptoms in a Polish family with a novel THAP1 mutation.
The International journal of neuroscience - 1 Jan 2015
Gajos Agata, Golańska Ewa, Sieruta Monika, Szybka Małgorzata, Liberski Paweł P, Bogucki Andrzej
Abstract excerpt
BACKGROUND: Mutations in the THAP1 gene are associated with a broad spectrum of dystonia including focal and generalized forms. Missense, nonsense and frameshift mutations, including small insertions/deletions within the THAP1 gene, have been reported and majority of them cause autosomal dominant disease with limited penetrance of approximately 60%. Here, we describe a novel THAP1 mutation. MATERIALS AND METHODS:...
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