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

Int J Cardiol. 2016 May 1:210:41-4. doi: 10.1016/j.ijcard.2016.02.082. Epub 2016 Feb 13.

¹ 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.
² Cardiovascular and Cell Sciences Institute, St George's University of London, Cranmer Terrace, London, UK.
³ Dept. of Neurology, Atkinson Morley Neuroscience Centre, St. George's University Hospital NHS Foundation Trust, London, UK.
⁴ Division of Genetics and Molecular Medicine, King's College London, Guy's Hospital, Great Maze Pond, London, UK.
⁵ Imperial College Royal Brompton and Harefield NHS Foundation Trust, London, UK.
⁶ Institute of Child Health, University College London, London, UK.
⁷ Stroke and Dementia Research Centre, St Georges University of London, London, UK.
⁸ Department of Cardiology, St George's University Hospital NHS Foundation Trust, London, UK.

No abstract available

Keywords: ATGL; Cardiomyopathy; Exome; Muscle; NLSD-M; PNPLA2.

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