Ryanodine receptor type 3 (<i><scp>RYR</scp>3</i>) as a novel gene associated with a myopathy with nemaline bodies

Abstract

The results suggest that variants in RYR3 may cause a recessive muscle disease with pathological features including nemaline bodies. We characterize the expression pattern of RYR3 in human skeletal muscle and brain, and the subcellular localization of RYR1 and RYR3 in human skeletal muscle.