Why the study?
What is the frequency and distribution of RyR1 gene mutations in North American patients with malignant hyperthermia susceptibility?
Population
124 unrelated patients with malignant hyperthermia (MH) susceptibility in North America
Design
Cross-sectional
Authors
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May support initial central RyR1 screening in MH-susceptible patients; leaves open broader validation in prospective North American cohorts.
What is the frequency and distribution of RyR1 gene mutations in North American patients with malignant hyperthermia susceptibility?
In North American patients susceptible to malignant hyperthermia, screening the central region of the RyR1 gene first is the most effective strategy, as it contains about 70% of the identified mutations.
Sei et al. (2004) studied this question.
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