Fig. 1. ( A ) A heteroduplex pattern of C7310T mutant elucidated by the denaturing high-performance liquid chromatography method (Transgenomics Wave, Omaha, NE). A superimposed image shows four denaturing high-performance liquid chromatography patterns from three wild types and from the patient with the mutant. ( B ) Identification of the novel mutation by sequencing analysis. Nucleotide sequence indicates C-to-T nucleotide exchange at 7310. ( C ) Aliened amino acid sequences of ryanodine receptor ( RYR ) genes from different species. Sequences are derived from their GeneBank entries (human RYR1 , NM 000540; human RYR2 , NM 001035; human RYR3 , AJ001515; frog RYR1 , D21070; fish RYR ; U97329, Drosophila melanogaster RYR homolog, AE003835; Caenorhabditis elegans RYR , D45899). The position of the mutation Ala 2437Val is indicated as an arrow , and its numbering corresponds to the human RYR1 sequence. A horizontal dash means identical to a corresponding amino acid of human RYR1. Amino acid sequences were aligned using the MegAlign software (DNASTAR, Inc., Madison, WI).