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Article

A new mutation in the ryanodine receptor 2 gene (RYR2 C2277R) as a cause catecholaminergic polymorphic ventricular tachycardia.

Revista espanola de cardiologia (English ed.) - 1 Jan 2015

Domingo Diana, López-Vilella Raquel, Arnau Miguel Ángel, Cano Óscar, Fernández-Pons Elena, Zorio Esther

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 25435091
DOI: 10.1016/j.rec.2014.07.022

Genes

RYR2

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

Related research

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A new mutation in the ryanodine receptor 2 gene (RYR2 C2277R) as a cause catecholaminergic polymorphic ventricular tachycardia.PMID 25435091Read ↗

A novel variant in RyR2 causes familiar catecholaminergic polymorphic ventricular tachycardia.Semantic proximity Read ↗

Loss-of-function mutations in cardiac ryanodine receptor channel cause various types of arrhythmias including long QT syndrome.Semantic proximity Read ↗

Cardiac ryanodine receptor gene (hRyR2) mutation underlying catecholaminergic polymorphic ventricular tachycardia in a Chinese adolescent presenting with sudden cardiac arrest and cardiac syncope.Semantic proximity Read ↗

Pathogenic mechanism of a catecholaminergic polymorphic ventricular tachycardia causing-mutation in cardiac calcium release channel RyR2.Semantic proximity Read ↗

Rare RYR2 p.Thr85Ile variant is associated with catecholaminergic polymorphic ventricular tachycardia.Semantic proximity Read ↗

Non-ventricular, Clinical, and Functional Features of the RyR2(R420Q) Mutation Causing Catecholaminergic Polymorphic Ventricular Tachycardia.Semantic proximity Read ↗

Clinical and molecular characterization of a cardiac ryanodine receptor founder mutation causing catecholaminergic polymorphic ventricular tachycardia.Semantic proximity Read ↗

Recurrent ventricular fibrillation in a young female carrying a previously unidentified RyR2 gene mutation.Semantic proximity Read ↗

Identification of a novel mutation in the ryanodine receptor gene (RYR1) in patients with malignant hyperthermia.Semantic proximity Read ↗

Ryanodine receptor mutations presenting as idiopathic ventricular fibrillation: a report on two novel familial compound mutations, c.6224T>C and c.13781A>G, with the clinical presentation of idiopathic ventricular fibrillation.Semantic proximity Read ↗

Classification and correlation of RYR2 missense variants in individuals with catecholaminergic polymorphic ventricular tachycardia reveals phenotypic relationships.Semantic proximity Read ↗

[RyR2 mutation-linked arrhythmogenic diseases and its therapeutic strategies].Semantic proximity Read ↗

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