Lemd2^em5348Tac

CRISPR/Cas9 technology generated a T to G change at position 38 (c.38T>G) resulting in a leucine to arginine substitution at amino acid 13 (p.L13R) in exon 1. Additional silent mutations were inserted into exon 1 to generate a Hind III restriction site for genotyping. The p.L13R variant has been identified in patients with arrhythmic cardiomyopathy. (J:337558)