Population
Malignant hyperthermia-susceptible pigs homozygous for the Cys615 ryanodine receptor allele and normal pigs…
Comparison
Purification and reconstitution of ryanodine… vs Normal porcine ryanodine receptors
Design
Preclinical
Authors
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Links Cys615 mutation to altered gating in porcine MH; confirms primary defect in this model but leaves open human translation.
The Cys615 mutation in the ryanodine receptor alters Ca2+ channel activity, likely representing the primary defect in malignant hyperthermia-susceptible porcine muscle.
Shomer et al. (1993) studied this question.
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