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
Case Report: PNPLA2 Gene Complex Heterozygous Mutation Leading to Neutral Lipid Storage Disease With Myopathy.
Shi J et al.
Frontiers in Integrative Neuroscience, 2020
Late onset of neutral lipid storage disease due to novel PNPLA2 mutations causing total loss of lipase activity in a patient with myopathy and slight cardiac involvement.
Missaglia S et al.
Neuromuscular Disorders : Nmd, 2017
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
Genetic mutations in adipose triglyceride lipase and myocardial up-regulation of peroxisome proliferated activated receptor-γ in patients with triglyceride deposit cardiomyovasculopathy.
Hirano K et al.
Biochemical and Biophysical Research Communications, 2014
Peripheral leukocyte anomaly detected with routine automated hematology analyzer sensitive to adipose triglyceride lipase deficiency manifesting neutral lipid storage disease with myopathy/triglyceride deposit cardiomyovasculopathy.
Suzuki A et al.
Molecular Genetics and Metabolism Reports, 2014
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