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

Catecholaminergic polymorphic ventricular tachycardia (CPVT) is an arrhythmogenic syndrome characterized by life‐threatening arrhythmias, a normal resting electrocardiogram and the absence of overt structural heart abnormalities. Mutations in RyR2 gene account for the large part of CPVT cases. Less...

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Detalles Bibliográficos
Autores principales: Jaouadi, Hager, Chabrak, Sonia, Lahbib, Saida, Abdelhak, Sonia, Zaffran, Stéphane
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2022
Materias:
Case Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8858789/
https://www.ncbi.nlm.nih.gov/pubmed/35341025
http://dx.doi.org/10.1002/ccr3.5339

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