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
Distinct cardiac phenotype between two homozygotes born in a village with accumulation of a genetic deficiency of adipose triglyceride lipase.
Higashi M et al.
International Journal of Cardiology, 2015
Novel PNPLA2 gene mutations in Chinese Han patients causing neutral lipid storage disease with myopathy.
Lin P et al.
Journal of Human 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
Clinical and genetic analysis of lipid storage myopathies.
Ohkuma A et al.
Muscle & Nerve, 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
Distal lipid storage myopathy due to PNPLA2 mutation.
Ohkuma A et al.
Neuromuscular Disorders : Nmd, 2008
Novel duplication mutation in the patatin domain of adipose triglyceride lipase (PNPLA2) in neutral lipid storage disease with severe myopathy.
Akiyama M et al.
Muscle & Nerve, 2007
Select a paper to view details