title: Whole exome sequence analysis reveals a homozygous mutation in PNPLA2 as the cause of severe dilated cardiomyopathy secondary to neutral lipid storage disease.
authors.affiliation: University of Exeter Medical School, Royal Devon and Exeter Hospital, Exeter, UK; Cardiovascular and Cell Sciences Institute, St George's University of London, Cranmer Terrace, London, UK.
authors.forename: M
authors.initials: M
authors.lastname: Muggenthaler
authors.affiliation: Cardiovascular and Cell Sciences Institute, St George's University of London, Cranmer Terrace, London, UK.
authors.forename: E
authors.initials: E
authors.lastname: Petropoulou
authors.affiliation: Dept. of Neurology, Atkinson Morley Neuroscience Centre, St. George's University Hospital NHS Foundation Trust, London, UK.
authors.forename: S
authors.initials: S
authors.lastname: Omer
authors.affiliation: Division of Genetics and Molecular Medicine, King's College London, Guy's Hospital, Great Maze Pond, London, UK.
authors.forename: M A
authors.initials: MA
authors.lastname: Simpson
authors.affiliation: Cardiovascular and Cell Sciences Institute, St George's University of London, Cranmer Terrace, London, UK.
authors.forename: H
authors.initials: H
authors.lastname: Sahak
authors.affiliation: Imperial College Royal Brompton and Harefield NHS Foundation Trust, London, UK.
authors.forename: A
authors.initials: A
authors.lastname: Rice
authors.affiliation: Cardiovascular and Cell Sciences Institute, St George's University of London, Cranmer Terrace, London, UK.
authors.forename: H
authors.initials: H
authors.lastname: Raju
authors.affiliation: Institute of Child Health, University College London, London, UK.
authors.forename: F J
authors.initials: FJ
authors.lastname: Conti
authors.affiliation: Stroke and Dementia Research Centre, St Georges University of London, London, UK.
authors.forename: L R
authors.initials: LR
authors.lastname: Bridges
authors.affiliation: Department of Cardiology, St George's University Hospital NHS Foundation Trust, London, UK.
authors.forename: L J
authors.initials: LJ
authors.lastname: Anderson
authors.affiliation: Cardiovascular and Cell Sciences Institute, St George's University of London, Cranmer Terrace, London, UK.
authors.forename: S
authors.initials: S
authors.lastname: Sharma
authors.affiliation: Cardiovascular and Cell Sciences Institute, St George's University of London, Cranmer Terrace, London, UK.
authors.forename: E R
authors.initials: ER
authors.lastname: Behr
authors.affiliation: Cardiovascular and Cell Sciences Institute, St George's University of London, Cranmer Terrace, London, UK.
authors.forename: Y
authors.initials: Y
authors.lastname: Jamshidi
mesh_terms: D002311:Cardiomyopathy, Dilated / Q000000981:diagnostic imaging / Q000209:etiology / Q000235:genetics*; D059472:Exome / Q000235:genetics*; D006801:Humans; D008049:Lipase / Q000235:genetics*; D008052:Lipid Metabolism, Inborn Errors / Q000150:complications / Q000000981:diagnostic imaging / Q000235:genetics*; D008297:Male; D009135:Muscular Diseases / Q000150:complications / Q000000981:diagnostic imaging / Q000235:genetics*; D020125:Mutation, Missense / Q000235:genetics*; D010375:Pedigree; D017421:Sequence Analysis; D055815:Young Adult; D000217:Acyltransferases
chemical_list: D008049:Lipase; C494794:PNPLA2 protein, human; D000217:Acyltransferases
keywords: ATGL; Cardiomyopathy; Exome; Muscle; NLSD-M; PNPLA2