Article
The role of mutations in COL6A3 in isolated dystonia.
Journal of neurology - 1 Apr 2016
Lohmann Katja, Schlicht Felix, Svetel Marina, Hinrichs Frauke, Zittel Simone, Graf Julia, Lohnau Thora, Schmidt Alexander, Mir Pablo, Krause Patricia, Lang Antony E, Jabusch Hans-Christian, Wolters Alexander, Kamm Christoph, Zeuner Kirsten E, Altenmüller Eckart, Naz Sadaf, Chung Sun Ju, Kostic Vladimir S, Münchau Alexander, Kühn Andrea A, Brüggemann Norbert, Klein Christine
Abstract excerpt
Specific mutations in COL6A3 have recently been reported as the cause of isolated recessive dystonia, which is a rare movement disorder. In all patients, at least one mutation was located in Exons 41 and 42. In an attempt to replicate these findings, we assessed by direct sequencing the frequency of rare variants in Exons 41 and 42 of COL6A3 in 955 patients with isolated or combined dystonia or with another...
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