2011•Journal of Clinical NeuroscienceRequires access

A study of a family with the skeletal muscle RYR1 mutation (c.7354C>T) associated with central core myopathy and malignant hyperthermia susceptibility

Adam Taylor, Katherine Lachlan, R M Manners, Andrew Lotery

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Key concepts: Malignant hyperthermia, RYR1, Congenital myopathy, Central core disease, Myopathy, Medicine, Ptosis, Compound heterozygosity

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A study of a family with the skeletal muscle RYR1 mutation (c.7354C>T) associated with central core myopathy and malignant hyperthermia susceptibility — Research Paper | ScholarLens