Congenital Myopathy 1b (MMD)

Congenital Myopathy 1b, also known as multiminicore disease, is related to congenital myopathy 1b, autosomal recessive and congenital myopathy 3 with rigid spine, and has symptoms including edema, ophthalmoplegia and facial paresis. An important gene associated with Congenital Myopathy 1b is RYR1 (Ryanodine Receptor 1), and among its related pathways/superpathways are DREAM Repression and Dynorphin Expression and Myometrial relaxation and contraction pathways. The drugs Orange and Sulfalene have been mentioned in the context of this disorder. Affiliated tissues include skeletal muscle and eye, and related phenotypes are muscle and homeostasis/metabolism