Indeed, a wide range of clinical phenotypes have been associated with the congenital myopathies resulting from mutations in RYR1, the RyR-encoding gene predominantly expressed in human skeletal muscle (Abath Neto et al., 2017; Bharucha-Goebel et al., 2013; Clarke et al., 2010; D'Arcy et al., 2008; Dowling et al., 2011; Jungbluth et al., 2012; Klein et al., 2012; Snoeck et al., 2015; Treves et al., 2008; Wei and Dirksen, 2010; Wilmshurst et al., 2010). Here, RYR1 is linked to congenital myopathy.