Congenital Myopathy 1a (CCD)

Congenital Myopathy 1a, also known as central core disease, is related to congenital myopathy 1a, autosomal dominant, with malignant hyperthermia and congenital myopathy, and has symptoms including generalized muscle weakness An important gene associated with Congenital Myopathy 1a is RYR1 (Ryanodine Receptor 1), and among its related pathways/superpathways are Transport of inorganic cations/anions and amino acids/oligopeptides and DREAM Repression and Dynorphin Expression. Affiliated tissues include skeletal muscle and heart, and related phenotypes are hypotonia and pes planus