RYR1 and myopathy: Congenital myopathies with mislocalized nuclei include CNMs and are genetically heterogeneous diseases caused by mutations in at least seven genes (MTM1, DNM2, BIN1, RYR1, TTN, SPEG and ZAK), with MTM1, DNM2, BIN1 and RYR1 being the most frequently associated (Jungbluth et al., 2008).