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Ancestor membership does not transfer phenotype values between groups.","importantHtml":""},"sections":[{"bodyHtml":"<p>CAV3-related distal myopathy is part of a group of conditions called caveolinopathies, which are muscle disorders caused by mutations in the CAV3 gene. The CAV3 gene provides instructions for making a protein called caveolin-3, which is found in the membrane surrounding muscle cells. This protein is the main component of caveolae, which are small pouches in the muscle cell membrane. Within the caveolae, the caveolin-3 protein acts as a scaffold to organize other molecules that are important for cell signaling and maintenance of the cell structure.</p><p>CAV3 gene mutations result in a shortage of caveolin-3 protein in the muscle cell membrane and a reduction in the number of caveolae. Researchers suggest that a shortage of caveolae impairs the structural integrity of muscle cells, interferes with cell signaling, and causes the self-destruction of cells (apoptosis). The resulting degeneration of muscle tissue leads to the signs and symptoms of CAV3-related distal myopathy.</p><p>In addition to CAV3-related distal myopathy, CAV3 gene mutations can cause other caveolinopathies including limb-girdle muscular dystrophy, rippling muscle disease, isolated hyperCKemia, and a heart disorder called hypertrophic cardiomyopathy. Several CAV3 gene mutations have been found to cause different caveolinopathies in different individuals. It is unclear why a single CAV3 gene mutation may cause different patterns of signs and symptoms, even within the same family.</p><p class=\"section-source\"><a href=\"https://medlineplus.gov/genetics/condition/cav3-related-distal-myopathy/#causes\">MedlinePlus Genetics: Causes</a></p>","key":"forms","title":"What causes CAV3-related distal myopathy?"},{"bodyHtml":"<p class=\"section-source\">Source: <a href=\"https://medlineplus.gov/genetics/condition/cav3-related-distal-myopathy\">MedlinePlus Genetics</a></p>","key":"overview","title":"Condition overview"}],"sharedSources":[],"slug":"cav3-related-distal-myopathy","sourceDocuments":[{"name":"CAV3-related distal myopathy","reviewed":"2014-05","sections":{"causes":{"fetchedAt":"2026-10-20T20:20:07.371648+00:00","label":"Causes","pageSha256":"39a07e6ad3b4fda60dafa8d4c749ea87355fcc54da2f4b8c8ddbd69ca7952f7f","sourceUrl":"https://medlineplus.gov/genetics/condition/cav3-related-distal-myopathy/#causes","status":"available"}},"source_release":"2026-10-01","url":"https://medlineplus.gov/genetics/condition/cav3-related-distal-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":"CAV3-related distal myopathy"},"schemaVersion":1}