Format

Send to

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

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

Author information

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.

KEYWORDS:

ATGL; Cardiomyopathy; Exome; Muscle; NLSD-M; PNPLA2

PMID:
26922712
DOI:
10.1016/j.ijcard.2016.02.082
[Indexed for MEDLINE]

Supplemental Content

Full text links

Icon for Elsevier Science
Loading ...
Support Center