Key result
A single guanine nucleotide insertion in exon 25 of the MyBP-C gene caused hypertrophic cardiomyopathy with incomplete penetrance, as only 10 of 27 gene carriers fulfilled diagnostic criteria.
Population
49 members of a multigeneration family evaluated for inherited hypertrophic cardiomyopathy
Design
Cohort
Authors
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Highlights incomplete penetrance for MyBP-C screening decisions; extends mutation spectrum but leaves validation to larger prospective studies.
Observational (n=49)
A novel MyBP-C gene mutation causing hypertrophic cardiomyopathy demonstrates incomplete, age-dependent penetrance and a generally benign prognosis.
Moolman et al. (2000) conducted an observational in Hypertrophic cardiomyopathy (n=49). MyBP-C gene mutation (exon 25 insertion) vs. Healthy relatives (non-carriers) was evaluated. A single guanine nucleotide insertion in exon 25 of the MyBP-C gene caused hypertrophic cardiomyopathy with incomplete penetrance, as only 10 of 27 gene carriers fulfilled diagnostic criteria.
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