A luminal EF-hand mutation in STIM1 in mice causes the clinical hallmarks of tubular aggregate myopathy

STIM and ORAI proteins play a fundamental role in calcium signalling, allowing for calcium influx through the plasma membrane upon depletion of intracellular stores in a process known as Store Operated Ca2+ Entry. Point mutations that lead to gain-of-function activity of either STIM1 or ORAI1 are responsible for a cluster of ultra-rare syndromes characterized by motor disturbances and platelet dysfunction. The prevalence of these disorders is at...