Population
469 individuals from 5 large LQTS families, each family with a different mutation of the HERG gene.
Design
Cohort
Follow-up
2 to 7 years
Authors
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QTc variability within identical HERG mutations was associated with events; supports modifier gene effects but leaves risk stratification open.
The clinical expression of LQT2 is highly variable even among carriers of the same HERG mutation, suggesting that modifier genes significantly influence the phenotype.
Benhorin et al. (2001) studied this question.
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