RYR1 and congenital myopathy: Mutations in the RYR1 gene (OMIM#180901) cause a wide spectrum of neuromuscular phenotypes, ranging from the dominantly inherited MHS trait [74] to various congenital myopathies, including dominantly inherited Central Core Disease [75] and subgroups of recessively inherited Multi-minicore Disease [76], Centronuclear Myopathy [77] and Congenital Fibre Type Disproportion [78].