Importantly, dominant mutations in the human JPH2 gene are associated with hypertrophic and dilated cardiomyopathy (Beavers et al., 2013; Landstrom et al., 2007; Sabater-Molina et al., 2016) and constitute a relatively rare cause of congenital cardiomyopathies. Here, JPH2 is linked to dilated cardiomyopathy.