Article
Frequency and phenotypic variability of the GAG deletion of the DYT1 gene in an unselected group of patients with dystonia.
Archives of neurology - 1 Sept 2003
Grundmann Kathrin, Laubis-Herrmann Ulrike, Bauer Ingrid, Dressler Dirk, Vollmer-Haase Juliane, Bauer Peter, Stuhrmann Manfred, Schulte Thorsten, Schöls Ludger, Topka Helge, Riess Olaf
Abstract excerpt
BACKGROUND: Dystonia is a clinically and genetically heterogeneous movement disorder characterized by sustained muscle contractions affecting one or more sites of the body, frequently causing twisting and repetitive movements or abnormal postures. A 3-base pair (GAG) deletion in the DYT1 gene is held responsible for most cases of early-onset primary generalized dystonia in the Ashkenazi Jewish population as well...
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