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

Autor: Muggenthaler M; 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., Petropoulou E; Cardiovascular and Cell Sciences Institute, St George's University of London, Cranmer Terrace, London, UK., Omer S; Dept. of Neurology, Atkinson Morley Neuroscience Centre, St. George's University Hospital NHS Foundation Trust, London, UK., Simpson MA; Division of Genetics and Molecular Medicine, King's College London, Guy's Hospital, Great Maze Pond, London, UK., Sahak H; Cardiovascular and Cell Sciences Institute, St George's University of London, Cranmer Terrace, London, UK., Rice A; Imperial College Royal Brompton and Harefield NHS Foundation Trust, London, UK., Raju H; Cardiovascular and Cell Sciences Institute, St George's University of London, Cranmer Terrace, London, UK., Conti FJ; Institute of Child Health, University College London, London, UK., Bridges LR; Stroke and Dementia Research Centre, St Georges University of London, London, UK., Anderson LJ; Department of Cardiology, St George's University Hospital NHS Foundation Trust, London, UK., Sharma S; Cardiovascular and Cell Sciences Institute, St George's University of London, Cranmer Terrace, London, UK., Behr ER; Cardiovascular and Cell Sciences Institute, St George's University of London, Cranmer Terrace, London, UK., Jamshidi Y; Cardiovascular and Cell Sciences Institute, St George's University of London, Cranmer Terrace, London, UK.
Jazyk: angličtina
Zdroj: International journal of cardiology [Int J Cardiol] 2016 May 01; Vol. 210, pp. 41-4. Date of Electronic Publication: 2016 Feb 13.
DOI: 10.1016/j.ijcard.2016.02.082
Databáze: MEDLINE