title: Severe cardiomyopathy in a young patient with complete deficiency of adipose triglyceride lipase due to a novel mutation in PNPLA2 gene.
authors.affiliation: Neuromuscular Diseases and Neuroimmunology, Fondazione IRCCS Istituto Neurologico "Carlo Besta", Milan, Italy.
authors.forename: Maria Barbara
authors.initials: MB
authors.lastname: Pasanisi
authors.affiliation: Laboratory of Cellular Biochemistry and Molecular Biology, CRIBENS, Catholic University of the Sacred Heart, Milan, Italy.
authors.forename: Sara
authors.initials: S
authors.lastname: Missaglia
authors.affiliation: Molecular Medicine, IRCCS Stella Maris, Pisa, Italy.
authors.forename: Denise
authors.initials: D
authors.lastname: Cassandrini
authors.affiliation: Neuromuscular Diseases and Neuroimmunology, Fondazione IRCCS Istituto Neurologico "Carlo Besta", Milan, Italy.
authors.forename: Franco
authors.initials: F
authors.lastname: Salerno
authors.affiliation: Centro Cardiologico Monzino, IRCCS, Milan, Italy.
authors.forename: Stefania
authors.initials: S
authors.lastname: Farina
authors.affiliation: Centro Cardiologico Monzino, IRCCS, Milan, Italy; Departement of Clinical and Community Sciences, Univerisity of Milan, Milan, Italy.
authors.forename: Daniele
authors.initials: D
authors.lastname: Andreini
authors.affiliation: Centro Cardiologico Monzino, IRCCS, Milan, Italy; Departement of Clinical and Community Sciences, Univerisity of Milan, Milan, Italy.
authors.forename: Piergiuseppe
authors.initials: P
authors.lastname: Agostoni
authors.affiliation: Neuromuscular Diseases and Neuroimmunology, Fondazione IRCCS Istituto Neurologico "Carlo Besta", Milan, Italy.
authors.forename: Lucia
authors.initials: L
authors.lastname: Morandi
authors.affiliation: Neuromuscular Diseases and Neuroimmunology, Fondazione IRCCS Istituto Neurologico "Carlo Besta", Milan, Italy.
authors.forename: Marina
authors.initials: M
authors.lastname: Mora
authors.affiliation: Laboratory of Cellular Biochemistry and Molecular Biology, CRIBENS, Catholic University of the Sacred Heart, Milan, Italy. Electronic address: daniela.tavian@unicatt.it.
authors.forename: Daniela
authors.initials: D
authors.lastname: Tavian
mesh_terms: D000328:Adult; D009202:Cardiomyopathies / Q000175:diagnosis* / Q000201:enzymology / Q000235:genetics*; D006801:Humans; D008049:Lipase / Q000172:deficiency* / Q000235:genetics*; D008297:Male; D009154:Mutation / Q000235:genetics*; D012720:Severity of Illness Index; D000217:Acyltransferases
chemical_list: D008049:Lipase; C494794:PNPLA2 protein, human; D000217:Acyltransferases
keywords: Cardiomyopathy; Lipid droplet; Myopathy; Neutral lipid storage disease; PNPLA2/ATGL; Triacylglycerol