RyR2mutationer
RyR2 mutations are alterations in the RYR2 gene, which provides instructions for making the ryanodine receptor 2. This receptor is a protein found primarily in the membrane of the sarcoplasmic reticulum, a specialized organelle within heart muscle cells that stores and releases calcium. The controlled release of calcium from the sarcoplasmic reticulum is essential for initiating and regulating the contraction of the heart muscle.
Mutations in the RYR2 gene can lead to a condition known as catecholaminergic polymorphic ventricular tachycardia
These arrhythmias can manifest as rapid, irregular heartbeats originating from the ventricles, the lower chambers of