Identification of two variants in AGRN and RPL3L genes in a patient with catecholaminergic polymorphic ventricular tachycardia suggesting new candidate disease genes and digenic inheritance - Archive ouverte HAL Access content directly
Preprints, Working Papers, ... Identification of two variants in AGRN and RPL3L genes in a patient with catecholaminergic polymorphic ventricular tachycardia suggesting new candidate disease genes and digenic inheritance Year : 2021

Identification of two variants in AGRN and RPL3L genes in a patient with catecholaminergic polymorphic ventricular tachycardia suggesting new candidate disease genes and digenic inheritance

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Abstract

Catecholaminergic Polymorphic Ventricular Tachycardia is a life-threatening disorder. The clinical diagnosis is challenging owing to the absence of electrocardiogram and overt structural heart abnormalities in the majority of patients. Approximately 35% of cases remain without a genetic etiology. Here, we identified two genes as a novel promising candidate for CPVT.

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pasteur-03561412 , version 1 (08-02-2022)

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Hager Jaouadi, Sonia Chabrak, Saida Lahbib, Sonia Abdelhak, Stéphane Zaffran. Identification of two variants in AGRN and RPL3L genes in a patient with catecholaminergic polymorphic ventricular tachycardia suggesting new candidate disease genes and digenic inheritance. 2022. ⟨pasteur-03561412⟩
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