A Type 2 Ryanodine Receptor Variant in the Helical Domain 2 Associated with an Impairment of the Adrenergic Response

A Type 2 Ryanodine Receptor Variant in the Helical Domain 2 Associated with an Impairment of the Adrenergic Response

Catecholaminergic polymorphic ventricular tachycardia (CPVT) is triggered by exercise or acute emotion in patients with normal resting electrocardiogram. The major disease-causing gene is <i>RYR2</i>, encoding the cardiac ryanodine receptor (RyR2). We report a novel <i>RYR2</i&g...

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Bibliographic Details
Main Authors: Malorie Blancard, Zahia Touat-Hamici, Yuriana Aguilar-Sanchez, Liheng Yin, Guy Vaksmann, Nathalie Roux-Buisson, Véronique Fressart, Isabelle Denjoy, Didier Klug, Nathalie Neyroud, Josefina Ramos-Franco, Ana Maria Gomez, Pascale Guicheney
Format: Article
Language:English
Published: MDPI AG 2021-06-01
Series:Journal of Personalized Medicine
Subjects:
arrhythmia
CPVT
RYR2
calcium
sudden death
adrenergic stimulation
Online Access:https://www.mdpi.com/2075-4426/11/6/579

Internet

https://www.mdpi.com/2075-4426/11/6/579

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