In humans, RYR1 channels are best known for their role in excitation–contraction coupling (ECC), which links motor neuron signaling to skeletal muscle contractions (Fill and Copello, 2002; Treves et al., 2017) and mutations in the RYR1 gene are a major causative factor of many congenital myopathies (Jungbluth et al., 2018; Klein et al., 2012; Sewry et al., 2008). Here, RYR1 is linked to congenital myopathy with cores.