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  • Molecular assay reagents intended to identify mutations in the ryanodine receptor 1 (skeletal) (RYR1) gene, located at chromosome 19q13.1, which encodes for a receptor found in skeletal muscle. The encoded protein functions as a calcium-release channel. Inherited genetic mutations are associated with congenital myopathies, including central core disease (CCD) and multiminicore diseases (MmD); mutations are also associated with malignant hyperthermia (MH) susceptibility.
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