RYR1 and congenital myopathy with cores: The Ca2+ release channel is responsible for being encoded, and the muscle contraction is initiated by the release of Ca2+ and the relaxation is achieved by the rapid reuptake of Ca2+ by Ca2+ pump [11]. RYR1 encodes the skeletal muscle isoform RYR1 and mutation in the RYR1 gene is associated with congenital myopathies, which form a continuous spectrum of pathological features including a severe variant with onset in utero with fetal akinesia and arthrogryposis, central core disease (CCD), and malignant hyperthermia susceptibility [11–13].