Clinical Diagnostic Exome Sequencing in Dystonia: the Challenges of Genetic Testing for Complex Conditions
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Dystonia is a group of clinically and genetically heterogeneous disorders in which knowledge of genes associated with the conditions is rapidly changing
If a genetic etiology for dystonia can be determined, targeted therapies can be initiated and symptoms may be reduced
We report the detection rates and findings in 189 probands with dystonia undergoing exome
Detection rates of individuals that present with dystonia or potential dystonia are similar to individuals with other genetic conditions undergoing DES
Authors: Zöe Powis; Kirsten Blanco; Kelly Farwell Hagman; Elaine C. Weltmer; Amanda Bergner; Jing Wang; Sha Tang