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Ancestor membership does not transfer phenotype values between groups.","importantHtml":""},"sections":[{"bodyHtml":"<p>Mutations in the PNPLA2 gene cause neutral lipid storage disease with myopathy. The PNPLA2 gene provides instructions for making an enzyme called adipose triglyceride lipase (ATGL). The ATGL enzyme plays a role in breaking down fats called triglycerides. Triglycerides are an important source of stored energy in cells. These fats must be broken down into simpler molecules called fatty acids before they can be used for energy.</p><p>PNPLA2 gene mutations impair the ATGL enzyme&#x27;s ability to break down triglycerides. These triglycerides then accumulate in muscle and tissues throughout the body, resulting in the signs and symptoms of neutral lipid storage disease with myopathy.</p><p class=\"section-source\"><a href=\"https://medlineplus.gov/genetics/condition/neutral-lipid-storage-disease-with-myopathy/#causes\">MedlinePlus Genetics: Causes</a></p>","key":"forms","title":"What causes Neutral lipid storage disease with myopathy?"},{"bodyHtml":"<p class=\"section-source\">Source: <a href=\"https://medlineplus.gov/genetics/condition/neutral-lipid-storage-disease-with-myopathy\">MedlinePlus Genetics</a></p>","key":"overview","title":"Condition overview"}],"sharedSources":[],"slug":"neutral-lipid-storage-disease-with-myopathy","sourceDocuments":[{"name":"Neutral lipid storage disease with myopathy","reviewed":"2008-11","sections":{"causes":{"fetchedAt":"2026-10-20T20:23:46.261640+00:00","label":"Causes","pageSha256":"66ea0e6e502ae19539a8313297e71522e50f176dea1f5d575baa740a5d2be539","sourceUrl":"https://medlineplus.gov/genetics/condition/neutral-lipid-storage-disease-with-myopathy/#causes","status":"available"}},"source_release":"2026-10-01","url":"https://medlineplus.gov/genetics/condition/neutral-lipid-storage-disease-with-myopathy"}],"sourceNote":"MedlinePlus descriptions and Causes; original HPO annotations.","takeawayHtml":"Cause explanations are from MedlinePlus Genetics. Feature values below retain their original sources and patient groups.","title":"Neutral lipid storage disease with myopathy"},"schemaVersion":1}