Why the study?
Over 300 RYR1 mutations are associated with malignant hyperthermia, but the underlying mechanisms remain largely unknown due to a lack of comprehensive structure-function analysis.
Disease-associated mutations in the RYR1 N-terminal domain alter interdomain interactions, providing structural insights into the mechanism of malignant hyperthermia.
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RYR1 variant effects in MH lack comprehensive mapping; leaves open mechanistic understanding for patient management.
Yamazawa et al. (2019) studied this question.
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