In a previous study by Bienegraber et al., two individuals with dilated cardiomyopathy (DCM) were found to have heterozygous, LoF, missense mutations in exon 38 of ABCC9, an exon only included in the SUR2A splice variant, and not in SUR2B18. The gene discussed is ABCC9; the disease is dilated cardiomyopathy.