Detection of a Novel Ryanodine Receptor Subtype 1 Mutation (R328W) in a Malignant Hyperthermia Family by Sequencing of a Leukocyte Transcript

A Canadian pedigree with malignant hyperthermia (MH) susceptibility, including one MH-susceptible family member whose leukocytes were sequenced, and human embryonic kidney line 293 cells for in vitro expression.

Sequencing of the complete RYR1 transcript from leukocytes and functional testing of the introduced mutation in rabbit RYR1 cDNA expressed in HEK 293 cells.

Detection of a causal mutation for MH susceptibility and measurement of Ca2+ release following the addition of caffeine and halothane.surrogate