Why the study?
What is the prevalence of three known RYR1 gene mutations in Danish families with malignant hyperthermia?
Population
48 Danish families in which malignant hyperthermia reactions have occurred
Design
Cross-sectional
Authors
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These RYR1 mutations are rare in Danish MH families; leaves open broader genetic screening for other variants.
What is the prevalence of three known RYR1 gene mutations in Danish families with malignant hyperthermia?
The three tested RYR1 mutations, including the 'pig mutation', are not a frequent cause of malignant hyperthermia susceptibility in Denmark.
Fagerlund et al. (1994) studied this question.
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