Article
Phenotypes and genetic architecture of focal primary torsion dystonia.
Journal of neurology, neurosurgery, and psychiatry - 1 Oct 2012
Groen Justus L, Kallen Marlot C, van de Warrenburg Bart P C, Speelman J D, van Hilten Jacobus J, Aramideh Majid, Boon Agnita J W, Klein Christine, Koelman Johannes H T M, Langeveld Ton P, Baas Frank, Tijssen Marina A J
Abstract excerpt
BACKGROUND: The focal primary torsion dystonias (FPTDs) form a group of clinical heterogeneous syndromes and can be considered a genetic complex disease; it is thought to be primed by genetic variants with variable impact and triggered by non-genetic factors. Thorough clinical description of FPTDs cohorts is sparse but essential for further progress in genetic research. OBJECTIVE: To establish suggested relations...
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