Identification of Heterozygous and Homozygous Individuals with the Novel RYR1 Mutation Cys35Arg in a Large Kindred

Abstract

The proband in this kindred is the first reported homozygote to have presented with an MH episode. The homozygotes in this pedigree do not have an overt myopathy. The sensitivity of muscle samples to caffeine clearly distinguished the two homozygotes from other heterozygous-susceptible individuals. No clear differentiation was observed with the halothane contracture results.