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Paroxysmal kinesigenic dyskinesia associated with a novel POLG variant: A case report
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 PRRT...
| Autores principales: | , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Lippincott Williams & Wilkins
2021
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7850660/ https://www.ncbi.nlm.nih.gov/pubmed/33530235 http://dx.doi.org/10.1097/MD.0000000000024395 |