Muscle & nerve
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In this study we present 3 families with malignant hyperthermia (MH), all of Indian subcontinent descent. One individual from each of these families was fully sequenced for RYR1 and presented with the non-synonymous change c.11315G>A/p. R3772Q. When present in the homozygous state c.11315*A is associated with myopathic symptoms.