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Description of a novel RyR2 mutation in a juvenile patient with symptomatic catecholaminergic polymorphic ventricular tachycardia in sleep and during exercise: a case report

BACKGROUND: Catecholaminergic polymorphic ventricular tachycardia is an inherited disease presenting with arrhythmic events during physical exercise or emotional stress. If untreated, catecholaminergic polymorphic ventricular tachycardia is a highly lethal condition: About 80% of affected individual...

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Detalles Bibliográficos
Autores principales: Seidlmayer, L. K., Riediger, F., Pagonas, N., Nordbeck, P., Ritter, O., Sasko, B.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2018
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6176516/
https://www.ncbi.nlm.nih.gov/pubmed/30296944
http://dx.doi.org/10.1186/s13256-018-1825-6