Disease

Central Core Disease

About the Disease
Central Core Disease of Muscle, also known as central core disease, is related to malignant hyperthermia of anesthesia and king-denborough syndrome, and has symptoms including generalized muscle weakness An important gene associated with Central Core Disease of Muscle 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, heart and skin, and related phenotypes are facial palsy and pes planus

Common Targets
TTN | MYH7 | CCDC78 | NEB | RYR1

疾病靶点研报
Central Core Disease

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