Family 2 (Fam2) consists of two parents and their two sons, one of which (Fam2.II.1) is affected by ACM. The male patient Fam2.II.1, his brother Fam2.II.2 and their mother Fam2.I.2 carry the heterozygous nine base pair deletion NG_009000.1(PKP2):c.2569_2577 + 41del, which crosses an exon/intron border.