Novel four-exon deletion in ryanodine receptor gene (RYR2) associated with mixed electric and structural cardiac phenotype

Kód výsledku v IS VaVaI

<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F46747885%3A24530%2F25%3A00013660" target="_blank" >RIV/46747885:24530/25:00013660 - isvavai.cz</a>

Výsledek na webu

<a href="https://doi.org/10.1093/europace/euaf189" target="_blank" >https://doi.org/10.1093/europace/euaf189</a>

DOI - Digital Object Identifier

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Jazyk výsledku

angličtina

Název v původním jazyce

Novel four-exon deletion in ryanodine receptor gene (RYR2) associated with mixed electric and structural cardiac phenotype

Popis výsledku v původním jazyce

Ryanodine receptor 2 gene codes for a Ca2+ channel involved in excitation–contraction coupling in the cardiac muscle. Missense mutations in RYR2 cause catecholaminergic polymorphic ventricular tachycardia (CPVT), while an exon 3 deletion has been reported in patients with variable clinical manifestations including supraventricular arrhythmias, conduction disorders, ventricular arrhythmias and left ventricular (LV) hypertrabecularization. This syndrome, also called exon 3 deletion syndrome (E3DS), is now considered a distinct diagnostic entity among RYR2-ryanodinopathies.

Název v anglickém jazyce

Novel four-exon deletion in ryanodine receptor gene (RYR2) associated with mixed electric and structural cardiac phenotype

Popis výsledku anglicky

Ryanodine receptor 2 gene codes for a Ca2+ channel involved in excitation–contraction coupling in the cardiac muscle. Missense mutations in RYR2 cause catecholaminergic polymorphic ventricular tachycardia (CPVT), while an exon 3 deletion has been reported in patients with variable clinical manifestations including supraventricular arrhythmias, conduction disorders, ventricular arrhythmias and left ventricular (LV) hypertrabecularization. This syndrome, also called exon 3 deletion syndrome (E3DS), is now considered a distinct diagnostic entity among RYR2-ryanodinopathies.

Druh

O - Ostatní výsledky

CEP obor

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OECD FORD obor

30201 - Cardiac and Cardiovascular systems

Projekt

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Návaznosti

I - Institucionalni podpora na dlouhodoby koncepcni rozvoj vyzkumne organizace

Rok uplatnění

2025

Kód důvěrnosti údajů

S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů