Whole exome sequence analysis reveals a homozygous mutation in PNPLA2 as the cause of severe dilated cardiomyopathy secondary to neutral lipid storage disease

M. Muggenthaler, E. Petropoulou, S. Omer, M.A. Simpson, H. Sahak, A. Rice, H. Raju, F.J. Conti, L.R. Bridges, L.J. Anderson, S. Sharma, E.R. Behr, Y. Jamshidi

Whole exome sequence analysis reveals a homozygous mutation in PNPLA2 as the cause of severe dilated cardiomyopathy secondary to neutral lipid storage disease

International Journal of Cardiology, May 2016 {Abstract}