Mutations in RYR1 have been associated with different neuromuscular phenotypes including central core disease (CCD, MIM# 117000) [22], [23], multiminicore disease (MmD, MIM# 255320) [24], congenital myopathy with central or internalized nuclei [15], [16], congenital fiber-type disproportion (CFTD, MIM# 255310) [25], foetal akinesia [26], benign Samaritan congenital myopathy [27], and malignant hyperthermia susceptibility (MH, MIM# 145600) [28]. This evidence concerns the gene RYR1 and congenital myopathy.