Maria Barbara Pasanisi Sara Missaglia Denise Cassandrini Franco Salerno Stefania Farina Daniele Andreini Piergiuseppe Agostoni Lucia Morandi Marina Mora Daniela Tavian
10.1016/j.ijcard.2016.01.137
Int J Cardiol
2016 Mar 15;207:165-7.
cardiomyopathy lipid droplet myopathy neutral lipid storage disease pnpla2/atgl triacylglycerol
CC BY
https://pubmed.ncbi.nlm.nih.gov/26803235/
Cardiomyopathies / diagnosis Cardiomyopathies / genetics Lipase / deficiency Lipase / genetics Mutation / genetics Severity of Illness Index
Cardiomyopathies / diagnosis Cardiomyopathies / genetics Lipase / deficiency Lipase / genetics Mutation / genetics Severity of Illness Index Case Reports Letter Research Support, Non-U.S. Gov't Adult Cardiomyopathies / enzymology Humans Male Lipase PNPLA2 protein, human
PMC4766941
26803235
Severe cardiomyopathy in a young patient with complete deficiency of adipose triglyceride lipase due to a novel mutation in PNPLA2 gene
2016