Family 1 (Fam1) consists of eight individuals in three generations of which two are affected by ACM (Fam1.III.2 and Fam1.III.3). The five individuals Fam1.I.2, Fam1.II.2, Fam1.III.1, Fam1.III.2, and Fam1.III.3 carry the heterozygous one base-pair deletion NM_004572.3(PKP2):c.2013delC, NP_004563.2(PKP2):p.Lys672ArgfsTer12, which results in a premature stop codon after a frameshift mutation.