Congenital Myopathy 1b, Autosomal Recessive (CMYP1B)

Congenital Myopathy 1b, Autosomal Recessive, also known as minicore myopathy with external ophthalmoplegia, is related to congenital myopathy 1b and congenital myopathy 1a, autosomal dominant, with malignant hyperthermia, and has symptoms including edema, ophthalmoplegia and facial paresis. An important gene associated with Congenital Myopathy 1b, Autosomal Recessive is RYR1 (Ryanodine Receptor 1). Affiliated tissues include skeletal muscle and lung, and related phenotypes are myopathy and congenital muscular dystrophy