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A Recurrent VPS16 p.Arg187* Nonsense Variant in Early-Onset Generalized Dystonia.

Mov Disord. 2021 May 17. doi: 10.1002/mds.28647. Epub ahead of print. PMID: 33998058.

Authors/Editors: Ostrozovicova M, Jech R, Steel D, Pavelekova P, Han V, Gdovinova Z, Lichtner P, Kurian MA, Wiethoff S, Houlden H, Havránková P, Winkelmann J, Zech M, Skorvanek M.
Publication Date: 2021


Recently, heterozygous mutations in the VPS16 (vacuolar protein sorting 16 homolog) gene linked to early-onset dystonia were identified among patients of European ancestry. Here, we report on the identification of a recurrent heterozygous loss-of-function variant in VPS16 in four independent patients of European descent with progressive early-onset dystonia with phenotypic characteristics resembling the original description.

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