Article
[Genetic study of idiopathic torsion dystonia in Russia].
Genetika - 1 Mar 1996
Dadali E L, Markova E D, Petrin A N, Ivanova-Smolenskaia I A, Okuneva E G
Abstract excerpt
Inheritance of idiopathic torsion dystonia (ITD) was studied in 41 Russian families including 41 probands with generalized, focal, and segmental dystonia and 140 recurred cases. Affected relatives appeared in two or more generations in 31 families analyzed. It was shown that in 76% of segregated cases, ITD was inherited as an autosomal dominant trait with a penetrance of 40% and varying expression. An autosomal...
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