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Article

Paroxysmal kinesigenic dyskinesia associated with a novel POLG variant: A case report.

Medicine - 29 Jan 2021

Zhou Yaping, Zhang Jian, Wang Xiaoting, Peng Qian, Shang Xiuli

Abstract excerpt

INTRODUCTION: Paroxysmal kinesigenic dyskinesia (PKD) is a rare neurological disease characterized by recurrent dyskinesia or choreoathetosis triggered by sudden movements. Pathogenic variants in PRRT2 are the main cause of PKD. However, only about half of clinically diagnosed PKD patients have PRRT2 mutations, indicating that additional undiscovered causative genes could be implicated. PKD associated with POLG...

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PMID: 33530235
DOI: 10.1097/MD.0000000000024395
PMCID: PMC7850660

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