Article
Physiological studies in carriers of the DYT1 gene mutation.
Revue neurologique - 1 Oct 2003
Rothwell J C, Edwards M, Huang Y Z, Bhatia K P
Abstract excerpt
The DYT1 gene mutation is associated with early onset generalised dystonia. However, only 30-40 per cent of gene carriers develop symptoms. We have used electrophysiological tests to search for subclinical effects of the presence of the mutation in non-manifesting cases and compared these with those seen in clinically affected cases and healthy controls. Clinically affected patients had the same pattern of...
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