The congenital myopathies are a group of early-onset, non-dystrophic neuromuscular
conditions with characteristic muscle biopsy findings, variable severity and a stable or slowly …

Catecholaminergic polymorphic ventricular tachycardia (CPVT) is an inherited
arrhythmogenic disease occurring in patients with a structurally normal heart: the disease is …

Calcium signaling underlies much of physiology. Almost all the Ca2+ in the cytoplasm is
bound to buffers, with typically only∼ 1% being freely ionized at resting levels in most cells …

Background: Genetic variants in calsequestrin-2 (CASQ2) cause an autosomal recessive
form of catecholaminergic polymorphic ventricular tachycardia (CPVT), although isolated …

RyR2 shares close to 70% with 2 other mammalian RyR isoforms15: RyR1 and RyR3. RyR1
is predominantly found in skeletal muscle, where it is activated directly by the L-type Ca2+ …

Cardiac arrhythmias can follow disruption of the normal cellular electrophysiological
processes underlying excitable activity and their tissue propagation as coherent wavefronts …

In this final of a 5-part Focus Seminar series on precision medicine, we focus on
catecholaminergic polymorphic ventricular tachycardia (CPVT). This focus on CPVT allows …

This review focuses on muscle disorders and diseases caused by defects in the Ca2+
release channels of the sarcoplasmic reticulum, the ryanodine receptors, and in the luminal …

Catecholaminergic polymorphic ventricular tachycardia (CPVT) is an inherited
arrhythmogenic disorder characterized by life threatening arrhythmias elicited by physical …

Endoplasmic reticulum (ER) luminal Ca2+ is vital for the function of the ER and regulates
many cellular processes. Calreticulin is a highly conserved, ER‐resident Ca2+ binding …