The missense variant c.25C>T, p. Arg9Cys (OMIM: 172405.0001) (Schmitt et al., 2003) along with the nonsense variant c.116T>G, p. Leu39Term (OMIM: 172405.0002) [(Haghighi et al., 2003); see below] were the first PLN variants to be discovered in DCM patients, linking PLN genetic changes to cardiac disease. The gene discussed is PLN; the disease is familial dilated cardiomyopathy.