Why the study?
Is there evidence of genetic heterogeneity in familial long QT syndrome?
Population
131 individuals from a large Jewish family with a history of long QT syndrome, of whom 28 are affected.
Design
Cohort
Follow-up
over 7 years
Authors
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Supports broader genetic evaluation in LQTS families; leaves open precise additional loci for clinical translation.
Is there evidence of genetic heterogeneity in familial long QT syndrome?
This study demonstrates genetic heterogeneity in long QT syndrome, indicating that mutations at loci other than H-ras-1 can cause the disease.
Benhorin et al. (1993) studied this question.
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