Why the study?
Are CAV3 mutations a significant genetic cause of Long-QT Syndrome?
Population
167 probands with Long-QT Syndrome (LQTS)
Design
Cross-sectional
Authors
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CAV3 mutations are rare in LQTS and do not segregate with phenotype; leaves open LQTS9 validity and warrants cautious genetic interpretation.
Are CAV3 mutations a significant genetic cause of Long-QT Syndrome?
Mutations in CAV3 are rare in LQTS and do not independently cause the phenotype, suggesting that LQTS9 should be considered a provisional entity.
Hedley et al. (2013) studied this question.
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