Abstract
Central core disease (CCD) and malignant hyperthermia (MH) have been linked to point mutations in the gene encoding the skeletal muscle sarcoplasmic reticulum calcium release channel (ryanodine receptor), which is localized on human chromosome 19 (RYR11). Central core disease is a relatively mild, slowly progressive autosomal dominant myopathy, characterized histologically by the presence of centrally located cores running the length of the muscle fibres. MH is a pharmacogenetic induced hypermetabolic disease.
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