Article
A post hoc study on gene panel analysis for the diagnosis of dystonia.
Movement disorders : official journal of the Movement Disorder Society - 1 Apr 2017
van Egmond Martje E, Lugtenberg Coen H A, Brouwer Oebele F, Contarino Maria Fiorella, Fung Victor S C, Heiner-Fokkema M Rebecca, van Hilten Jacobus J, van der Hout Annemarie H, Peall Kathryn J, Sinke Richard J, Roze Emmanuel, Verschuuren-Bemelmans Corien C, Willemsen Michel A, Wolf Nicole I, Tijssen Marina A, de Koning Tom J
Abstract excerpt
BACKGROUND: Genetic disorders causing dystonia show great heterogeneity. Recent studies have suggested that next-generation sequencing techniques such as gene panel analysis can be effective in diagnosing heterogeneous conditions. The objective of this study was to investigate whether dystonia patients with a suspected genetic cause could benefit from the use of gene panel analysis. METHODS: In this post hoc...
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