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

Miriama Ostrozovicova^{1

2}, Robert Jech³, Dora Steel^{4

5}, Petra Pavelekova¹, Vladimir Han^{1

2}, Zuzana Gdovinova^{1

2}, Peter Lichtner⁶, Manju A Kurian^{4

5}, Sarah Wiethoff^{7

8}, Henry Houlden⁹, Petra Havránková³, Julianne Winkelmann^{10

11

12

13}, Michael Zech^{10

11}, Matej Skorvanek^{1

2}

Affiliations

¹ Department of Neurology, P.J. Safarik University, Kosice, Slovak Republic.
² Department of Neurology, University Hospital of L. Pasteur, Kosice, Slovak Republic.
³ Department of Neurology, Charles University, 1st Faculty of Medicine and General University Hospital in Prague, Prague, Czech Republic.
⁴ Developmental Neurosciences, UCL Great Ormond Street Institute of Child Health, London, United Kingdom.
⁵ Department of Neurology, Great Ormond Street Hospital, London, United Kingdom.
⁶ Core Facility NGS, Helmholtz Zentrum München, Munich, Germany.
⁷ Department of Neurology with Institute for Translational Neurology, University Clinics, Munster, Germany.
⁸ UCL Queen Square Institute of Neurology, London, United Kingdom.
⁹ Department of Neuromuscular Disorders, UCL Queen Square Institute of Neurology, London, United Kingdom.
¹⁰ Institute of Neurogenomics, Helmholtz Zentrum München, Munich, Germany.
¹¹ Institut für Humangenetik, Technische Universität München, Munich, Germany.
¹² Lehrstuhl für Neurogenetik, Technische Universität München, Munich, Germany.
¹³ Munich Cluster for Systems Neurology, SyNergy, Munich, Germany.

Miriama Ostrozovicova et al. Mov Disord. 2021 Aug.

. 2021 Aug;36(8):1984-1985.

doi: 10.1002/mds.28647. Epub 2021 May 17.

¹ Department of Neurology, P.J. Safarik University, Kosice, Slovak Republic.
² Department of Neurology, University Hospital of L. Pasteur, Kosice, Slovak Republic.
³ Department of Neurology, Charles University, 1st Faculty of Medicine and General University Hospital in Prague, Prague, Czech Republic.
⁴ Developmental Neurosciences, UCL Great Ormond Street Institute of Child Health, London, United Kingdom.
⁵ Department of Neurology, Great Ormond Street Hospital, London, United Kingdom.
⁶ Core Facility NGS, Helmholtz Zentrum München, Munich, Germany.
⁷ Department of Neurology with Institute for Translational Neurology, University Clinics, Munster, Germany.
⁸ UCL Queen Square Institute of Neurology, London, United Kingdom.
⁹ Department of Neuromuscular Disorders, UCL Queen Square Institute of Neurology, London, United Kingdom.
¹⁰ Institute of Neurogenomics, Helmholtz Zentrum München, Munich, Germany.
¹¹ Institut für Humangenetik, Technische Universität München, Munich, Germany.
¹² Lehrstuhl für Neurogenetik, Technische Universität München, Munich, Germany.
¹³ Munich Cluster for Systems Neurology, SyNergy, Munich, Germany.

No abstract available

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