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Comment
. 2021 Mar;89(3):625-626.
doi: 10.1002/ana.25990. Epub 2020 Dec 28.

Truncating VPS16 Mutations Are Rare in Early Onset Dystonia

Hendrik Pott  1 , Norbert Brüggemann  1   2 , Rene Reese  3   4 , Kirsten E Zeuner  3 , Florin Gandor  5 , Doreen Gruber  5 ; DysTract Study Group; Christine Klein  1 , Jens Volkmann  3   6 , Katja Lohmann  1
Affiliations
Comment

Truncating VPS16 Mutations Are Rare in Early Onset Dystonia

Hendrik Pott et al. Ann Neurol. 2021 Mar.
No abstract available

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  • Loss-of-Function Variants in HOPS Complex Genes VPS16 and VPS41 Cause Early Onset Dystonia Associated with Lysosomal Abnormalities.
    Steel D, Zech M, Zhao C, Barwick KES, Burke D, Demailly D, Kumar KR, Zorzi G, Nardocci N, Kaiyrzhanov R, Wagner M, Iuso A, Berutti R, Škorvánek M, Necpál J, Davis R, Wiethoff S, Mankad K, Sudhakar S, Ferrini A, Sharma S, Kamsteeg EJ, Tijssen MA, Verschuuren C, van Egmond ME, Flowers JM, McEntagart M, Tucci A, Coubes P, Bustos BI, Gonzalez-Latapi P, Tisch S, Darveniza P, Gorman KM, Peall KJ, Bötzel K, Koch JC, Kmieć T, Plecko B, Boesch S, Haslinger B, Jech R, Garavaglia B, Wood N, Houlden H, Gissen P, Lubbe SJ, Sue CM, Cif L, Mencacci NE, Anderson G, Kurian MA, Winkelmann J; Genomics England Research Consortium. Steel D, et al. Ann Neurol. 2020 Nov;88(5):867-877. doi: 10.1002/ana.25879. Epub 2020 Sep 21. Ann Neurol. 2020. PMID: 32808683

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