Novel missense mutations in PNPLA2 causing late onset and clinical heterogeneity of neutral lipid storage disease with myopathy in three siblings

Biochemistry, Genetics and Molecular Biology

• Lipid Storage 100%
• Mutation 80%
• Missense Mutation 40%
• Adipose Triglyceride Lipase 40%
• Lipid Droplet 40%
• Age 40%
• Nested Gene 20%
• Exercise 20%
• Phenotype 20%
• Lysozyme 20%
• Enzymatic Hydrolysis 20%
• Lipase 20%
• Target Organ 20%
• Data Analysis 20%
• Genetics 20%
• Position 20%
• Protein 20%
• Fatty Acid 20%