Why the study?
Does genetic screening for RYR1 mutations provide a less invasive diagnostic alternative to caffeine-halothane contracture testing for malignant hyperthermia susceptibility?
Population
Individuals susceptible to malignant hyperthermia (MH) and their families in North America
Comparison
Genetic screening using a panel of 17 RYR1… vs Caffeine-halothane contracture testing of fresh…
Design
Editorial
Authors
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The introduction of a 17-mutation RYR1 genetic screening panel in North America provides a less invasive diagnostic alternative for malignant hyperthermia, potentially sparing many patients from surgical muscle biopsy.
Does genetic screening for RYR1 mutations provide a less invasive diagnostic alternative to caffeine-halothane contracture testing for malignant hyperthermia susceptibility?
The introduction of a 17-mutation RYR1 genetic screening panel in North America provides a less invasive diagnostic alternative for malignant hyperthermia, potentially sparing many patients from surgical muscle biopsy.
Nelson et al. (2004) studied this question.
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