• The role of CAV3 in long QT : clinical and functional assessment of a caveolin-3/Kc11.1 compound heterozygote 

      Hedley, Paula L.; Kanters, Jorgen K.; Dembic, Maja; Jesperson, Thomas; Skibsbye, Lasse; Aidt, Frederik H.; Eschen, Ole; Graff, Claus; Behr, Elijah R.; Schlamowitz, Sarah; Corfield, Valerie A.; McKenna, Willim J.; Christiansen, Michael (American Heart Association, 2013)
      Background— Mutations in CAV3, coding for caveolin-3, the major constituent scaffolding protein of cardiac caveolae, have been associated with skeletal muscle disease, cardiomyopathy, and most recently long–QT syndrome ...