Variable Clinical Appearance of the Kir2.1 Rare Variants in Russian Patients with Long QT Syndrome

Variable Clinical Appearance of the Kir2.1 Rare Variants in Russian Patients with Long QT Syndrome

Background: The <i>KCNJ2</i> gene encodes inward rectifier Kir2.1 channels, maintaining resting potential and cell excitability. Presumably, clinical phenotypes of mutation carriers correlate with ion permeability defects. Loss-of-function mutations lead to QTc prolongation with variable...

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Bibliographic Details
Main Authors: Elena Zaklyazminskaya, Margarita Polyak, Anna Shestak, Mariam Sadekova, Vera Komoliatova, Irina Kiseleva, Leonid Makarov, Dmitriy Podolyak, Grigory Glukhov, Han Zhang, Denis Abramochkin, Olga S. Sokolova
Format: Article
Language:English
Published: MDPI AG 2022-03-01
Series:Genes
Subjects:
primary arrhythmia
Long QT syndrome
LQT7
Andersen-Tawil syndrome
Kir2.1
<i>KCNJ2</i>
Online Access:https://www.mdpi.com/2073-4425/13/4/559

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https://www.mdpi.com/2073-4425/13/4/559

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