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Five cases of paroxysmal kinesigenic dyskinesia by genetic diagnosis

Paroxysmal kinesigenic dyskinesia (PKD) is an autosomal dominant disorder and PRRT2 is the causative gene of PKD. The aim of this study was to investigate PRRT2 mutations in patients who were clinically diagnosed with PKD. Nine PKD cases, including four familial cases and five sporadic cases, were s...

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Detalles Bibliográficos
Autor principal: CHEN, GUO-HONG
Formato: Online Artículo Texto
Lenguaje:English
Publicado: D.A. Spandidos 2015
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4316949/
https://www.ncbi.nlm.nih.gov/pubmed/25667652
http://dx.doi.org/10.3892/etm.2014.2155