RYR1 and King-Denborough syndrome: Multiple variants of RYR1 cause disorders such as congenital myopathy 1B, autosomal recessive (OMIM#255320); the dominantly inherited King Denborough syndrome (OMIM#619542); as well as congenital myopathy 1A, autosomal dominant, with susceptibility to malignant hyperthermia and central core disease (OMIM#117000).