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 RYR2, encoding the cardiac ryanodine receptor (RyR2). We report a novel RYR2 variant, p.Asp3291Val, outside the...

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Wedi'i Gadw mewn:
Manylion Llyfryddiaeth
Cyhoeddwyd yn:J Pers Med
Prif Awduron: Blancard, Malorie, Touat-Hamici, Zahia, Aguilar-Sanchez, Yuriana, Yin, Liheng, Vaksmann, Guy, Roux-Buisson, Nathalie, Fressart, Véronique, Denjoy, Isabelle, Klug, Didier, Neyroud, Nathalie, Ramos-Franco, Josefina, Gomez, Ana Maria, Guicheney, Pascale
Fformat: Artigo
Iaith:Inglês
Cyhoeddwyd: MDPI 2021
Pynciau:
Article
Mynediad Ar-lein:https://ncbi.nlm.nih.gov/pmc/articles/PMC8235491/
https://ncbi.nlm.nih.gov/pubmed/34202968
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3390/jpm11060579
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