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Compound heterozygous CASQ2 mutations and long‐term course of catecholaminergic polymorphic ventricular tachycardia

BACKGROUND: Catecholaminergic polymorphic ventricular tachycardia (CPVT) is a potentially lethal inherited cardiac disorder characterized by episodic ventricular tachycardia during adrenergic stimulation. It is associated with significant morbidity and mortality. Knowledge of the underlying genetic...

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Detalles Bibliográficos
Autores principales: Josephs, Katherine, Patel, Kunjan, Janson, Christopher M., Montagna, Cristina, McDonald, Thomas V.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2017
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5702571/
https://www.ncbi.nlm.nih.gov/pubmed/29178653
http://dx.doi.org/10.1002/mgg3.323