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Review
. 2015 Feb;11(2):78-9.
doi: 10.1038/nrneurol.2014.254. Epub 2015 Jan 6.

Movement Disorders in 2014. Genetic Advances Spark a Revolution in Dystonia Phenotyping

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Review

Movement Disorders in 2014. Genetic Advances Spark a Revolution in Dystonia Phenotyping

Tom J de Koning et al. Nat Rev Neurol. .

Abstract

Genetic revelations in 2014 are testing traditional classification systems for movement disorders, and our approach to clinical diagnostics. Mutations in dystonia-associated genes lead to a spectrum of disorders with different phenotypes, underscoring the need for stringent clinical phenotyping of patients with movement disorders, as well as next-generation sequencing approaches.

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