Molecular characterization of a large MYBPC3 rearrangement in a cohort of 100 unrelated patients with hypertrophic cardiomyopathy

► Mutations in the MYBPC3 gene represent the most prevalent genetic cause of DCM. ► 70% of MYBPC3 mutations introduce a premature termination codon. ► MYBPC3 analysis by MLPA confirms clinical diagnosis in less than 1% of HCM patients. ► Characterization of the first large MYBPC3 deletion reported in the literature.