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

Ivana DzinovicElisabeth GrafMelanie BruggerRiccardo BeruttiIva PříhodováAstrid BlaschekJuliane WinkelmannRobert JechKatharina VillMichael Zech
Published in: Movement disorders clinical practice (2023)
Keyphrases
  • deep brain stimulation
  • early onset
  • copy number
  • genome wide