Key result
RYR1 potentially pathogenic sequence variations were identified in 56.9% of Japanese malignant hyperthermia-susceptible patients, differing markedly from North American and European populations.
Why the study?
What is the frequency and distribution of RYR1 mutations in the Japanese malignant hyperthermia-susceptible population?
Observational (n=58)
What is the frequency and distribution of RYR1 mutations in the Japanese malignant hyperthermia-susceptible population?
Comprehensive screening of the entire RYR1 gene is necessary in Japanese MH-susceptible individuals due to a distinct mutation distribution compared to Western populations and many mutations located outside typical hot spots.
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RYR1 screening detects variants in Japanese MH cases; leaves open standardized genetic testing utility across populations.
Ibarra et al. (2006) conducted an observational in Malignant hyperthermia susceptibility (n=58). RYR1 mutations was evaluated on Frequency and distribution of RYR1 mutations. RYR1 potentially pathogenic sequence variations were identified in 56.9% of Japanese malignant hyperthermia-susceptible patients, differing markedly from North American and European populations.
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