Calcium channel ryanodine receptor:disorder is seen in:
Answer is A (Malignant Hypehermia): Malignant hypehermia is associated with mutations within the gene encoding the skeletal muscle ryanodine receptor, the calcium channel that releases calcium from sarcoplasmic reticulum. Disordered muscle calcium regulation is recognized as the underlying disorder in malignant hypehermia. Ryanodine receptor is the calcium channel on the sarcoplasmic reticulum which controls the flux of calcium from the sarcoplasmic reticulum into the cytoplasm. It plays an impoant role in the activation of the contractile mechanism, and its malfunction causes malignant hypehermia. RYR1 is the receptor type in muscle. The ryanodine receptor interacts with an L-tvpe calcium channel. Mutations in the ryanodine receptor are associated with central core myopathy and malignant hypehermia.
Malignant hypehermia
Duchene Muscular Dystrophy
Tibial muscular dystrophy
Limb girdle muscle dystrophy