The Ca(V)1.1 R174W mutation sensitizes muscle cells to malignant hyperthermia triggers by perturbing the negative regulation of RyR1 leak, identifying a unique mechanism for MH susceptibility.
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R174W may heighten MH trigger sensitivity via RyR1 leak in models; leaves open clinical relevance for human mutation carriers.
Eltit et al. (2012) studied this question.
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