Malignant hyperthermia susceptibility, an autosomal dominant disorder?

Swedish nuclear families with a history of malignant hyperthermia (MH) reactions during anesthesia. Includes 79 families where both parents were tested by IVCT, and 41 families screened for RYR1 mutations. Focus on 8 families where both parents were MH-negative but at least one child was MH-susceptible or equivocal.

In vitro contracture tests (IVCT) of muscle strips and genetic screening for 6 known RYR1 mutations (Arg163Cys, Gly341Arg, Ile403Met, Arg614Cys, Gly2433Arg, Arg2434His).

Malignant hyperthermia susceptibility status and presence of RYR1 mutations.surrogate