SYNE1 and familial dilated cardiomyopathy: Interestingly, three of the identified nesprin-1 mutations were unique DNA variants, which resulted in R8272Q, S8381C, N8406K amino acid exchanges in the C-terminus of the nesprin-1 giant as well as within the muscle specific isoform nesprin-1α2, and identified in seven unrelated DCM patients (Fig. 1A, Supplementary Material).