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. 

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. 

Close Modal

or Create an Account

Close Modal
Close Modal