Fig. 2. Identification of a novel RYR1 mutation. ( A ) Polyacrylamide gel stained with ethidium bromide showing single-stranded conformation polymorphism analysis of DNA sample with T4826I mutation ( lane 1 ), H4833Y mutation ( lane 2 ), and normal sample ( lane 3 ). The top band in lanes 1 and 2 represent the mutated allele, whereas the second to top bands represent the normal allele. ( B ) DNA sequence analysis of exon 100 of RYR1 . The top panel is from a malignant hyperthermia–susceptible patient with the H4833Y mutation; the C to T transition is indicated. The bottom panel is from a malignant hyperthermia–negative subject. ds=double stranded.