Mutations in ACTC1 are implicated in a range of cardiac phenotypes including cardiomyopathy (OMIM 613424) [34], cases of nemaline myopathy (OMIM 161800) are due to mutations in ACTA1 which can be dominantly or recessively inherited depending on the mutation [35], and ACTA2 mutations are associated with incompletely penetrant dominantly inherited aneurysm and dissections (OMIM 611788). Here, ACTA1 is linked to cardiomyopathy.