Challenges in Establishing the Diagnosis of PRRT2-Related Dystonia: Recurrent Pathogenic Variants in a Homopolymeric Stretch

Mov Disord Clin Pract. 2023 Jun 20;10(7):1159-1161. doi: 10.1002/mdc3.13793. eCollection 2023 Jul.

Ivana Dzinovic^{1

2}, Elisabeth Graf², Melanie Brugger², Riccardo Berutti^{1

2}, Iva Příhodová³, Astrid Blaschek⁴, Juliane Winkelmann^{1

2

5

6}, Robert Jech³, Katharina Vill⁴, Michael Zech^{1

2}

¹ Institute of Neurogenomics, Helmholtz Zentrum München Munich Germany.
² Institute of Human Genetics, School of Medicine Technical University of Munich Munich Germany.
³ Department of Neurology Charles University, 1st Faculty of Medicine and General University Hospital in Prague Prague Czech Republic.
⁴ Dr. v. Hauner Children's Hospital, Department of Pediatric Neurology and Developmental Medicine Ludwig-Maximilians-Universität Munich Germany.
⁵ Lehrstuhl für Neurogenetik, Technische Universität München Munich Germany.
⁶ Munich Cluster for Systems Neurology, SyNergy Munich Germany.

No abstract available