Associated Papers
Dilated cardiomyopathy caused by mutation of the PNPLA2 gene: a case report and literature review.
Wang S et al.
Frontiers in Genetics, 2024
39119584 (PubMed )
Supplement: Table1.XLSX › Sheet1
HyperCKemia: An early sign of childhood-onset neutral lipid storage disease with myopathy.
Fu X et al.
Neuromuscular Disorders : Nmd, 2023
Symptomatic lipid storage in carriers for the PNPLA2 gene.
Janssen MC et al.
European Journal of Human Genetics : Ejhg, 2013
Contribution of novel ATGL missense mutations to the clinical phenotype of NLSD-M: a strikingly low amount of lipase activity may preserve cardiac function.
Tavian D et al.
Human Molecular Genetics, 2012
The phenotypic spectrum of neutral lipid storage myopathy due to mutations in the PNPLA2 gene.
Reilich P et al.
Journal of Neurology, 2011
Neutral lipid storage disease: genetic disorders caused by mutations in adipose triglyceride lipase/PNPLA2 or CGI-58/ABHD5.
Schweiger M et al.
American Journal of Physiology. Endocrinology and Metabolism, 2009
Novel mutations in the adipose triglyceride lipase gene causing neutral lipid storage disease with myopathy.
Campagna F et al.
Biochemical and Biophysical Research Communications, 2008
The C-terminal region of human adipose triglyceride lipase affects enzyme activity and lipid droplet binding.
Schweiger M et al.
The Journal of Biological Chemistry, 2008
The gene encoding adipose triglyceride lipase (PNPLA2) is mutated in neutral lipid storage disease with myopathy.
Fischer J et al.
Nature Genetics, 2007
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