Key result
The G1021A mutation in the RYR1 gene was not found in any of the 279 North American patients tested, regardless of malignant hyperthermia susceptibility.
Why the study?
What is the prevalence of the RYR1 G1021A mutation in North American patients evaluated for malignant hyperthermia?
Population
279 North American patients, comprising 165 malignant hyperthermia (MH) normal and 114 MH susceptible patients
Design
Cross-sectional
Authors
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G1021A is absent in North American MH patients; leaves open ancestry-specific RYR1 testing panels.
Case-Control (n=279)
What is the prevalence of the RYR1 G1021A mutation in North American patients evaluated for malignant hyperthermia?
Absolute Event Rate: 0% vs 0%
The RYR1 G1021A mutation, which is frequent in European populations, is absent in this North American cohort, highlighting the geographical variability of malignant hyperthermia genetics.
Stewart et al. (1998) conducted a case-control in Malignant hyperthermia (n=279). Malignant hyperthermia susceptibility vs. Malignant hyperthermia normal was evaluated on Presence of the G1021A mutation. The G1021A mutation in the RYR1 gene was not found in any of the 279 North American patients tested, regardless of malignant hyperthermia susceptibility.
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