RYR1-related myopathies: A wide range of clinical phenotypes and pathological histotypes


RYR1 encodes the ryanodine receptor isoform 1, a homotetrameric calcium channel found on the terminal cisternae of the sarcoplasmic reticulum (SR) of skeletal muscle. Dominant and recessive RYR1 mutations have emerged as the most common cause of non-dystrophic inherited neuromuscular disorders, including congenital myopathies (central core disease, multi-minicore disease, centronuclear myopathy, and congenital fibre type disproportion), malignant hyperthermia susceptibility, and exertional rhabdomyolysis.

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