Abstract
Articles appearing in the October 2019 issue ### Objective To estimate the prevalence of TOR1A sequence variants associated with DYT1 dystonia. ### Methods We determined the frequency of the common trinucleotide deletion that causes DYT1 in the Genome Aggregation Database and the Penn Medicine Biobank, totaling exomes from over 135,000 individuals. We also evaluated the prevalence of other possible pathogenic variants in this gene and asked whether the D216H polymorphism is linked to a higher diagnostic rate for dystonia independent of the DYT1-causing mutation. ### Results The estimated range of prevalence of …
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