Article
Genetics and treatment of dystonia.
Neurologic clinics - 1 Aug 2009
Schwarz Cordelia S, Bressman Susan B
Abstract excerpt
The torsion dystonias encompass a broad collection of etiologic subtypes, often divided into primary and secondary classes. Tremendous advances have been made in uncovering the genetic basis of dystonia, including discovery of a gene causing early onset primary torsion dystonia-a GAG deletion in exon 5 of the DYT1 gene that encodes torsinA. Although the exact function of torsinA remains elusive, evidence suggests...
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