Variant ataxia-telangiectasia presenting as primary-appearing dystonia in Canadian Mennonites
Abstract:Objective: To compare the phenotype of primary-appearing dystonia due to variant ataxiatelangiectasia (A-T) with that of other dystonia ascertained for genetics research.
Methods:Movement disorder specialists examined 20 Canadian Mennonite adult probands with primary-appearing dystonia, as well as relatives in 4 families with parent-child transmission of dystonia. We screened for the exon 43 c.6200 CϾA (p. A2067D) ATM mutation and mutations in DYT1 and DYT6. Clinical features of the individuals with dystonia w… Show more
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