What is the Clinical Significance of Calsequestrin?
Mutations or deficiencies in calsequestrin can lead to various muscle disorders. For instance, mutations in the calsequestrin-2 gene are associated with catecholaminergic polymorphic ventricular tachycardia (CPVT), a condition that can cause life-threatening arrhythmias. Understanding the role of calsequestrin in normal and pathological conditions helps in developing targeted therapies for such disorders.
