Central core disease (CCD) of muscle is an inherited myopathy which is closely associated with malignant hyperthermia (MH) in humans. CCD has recently been shown to be tightly linked to the ryanodine receptor gene (RYR1) and mutations in this gene are known to be present in MH. Mutation screening of RYR1 has led to the identification of two previously undescribed mutations in different CCD pedigrees. One of these mutations was also detected in an unrelated MH pedigree whose members are asymptomatic of CCD. The data suggest a model to explain how a single mutation may result in two apparently distinct clinical phenotypes.
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Quane, K., Healy, J., Keating, K. et al. Mutations in the ryanodine receptor gene in central core disease and malignant hyperthermia. Nat Genet 5, 51–55 (1993). https://doi.org/10.1038/ng0993-51
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