Article
Genetics of primary dystonia.
Seminars in neurology - 1 Jan 1999
Klein C, Breakefield X O, Ozelius L J
Abstract excerpt
Currently, at least 12 types of dystonia can be distinguished on a genetic basis. Advances in the molecular genetics of dystonia have led to the recent identification of a 3-bp deletion in the DYT1 gene, causing early-onset generalized torsion dystonia (TD), and to the detection of mutations in the GTP cyclohydrolase I and the tyrosine hydroxylase genes causing dopa-responsive dystonia (DYT5). A missense change...
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