In this study, we reported two male patients with NLSDM presenting with severe dilated cardiomyopathy and mild skeletal myopathy and carrying a homozygous splicing mutation in PNPLA2. We also reviewed the clinical and genetic characteristics of cases with cardiomyopathy due to PNPLA2 mutation in the literature. The gene discussed is PNPLA2; the disease is Skeletal myopathy.