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). 

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). 

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