Identification of a new missense mutation in MyBP-C associated with hypertrophic cardiomyopathy.
Key result
A novel Arg654His missense mutation in MyBP-C was identified in a South African proband with hypertrophic cardiomyopathy and his three adult children, though only the proband was markedly affected.
Population
South African hypertrophic cardiomyopathy population, specifically one proband and his three adult children
Design
Case_report
Authors
Discussion
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Implication
Highlights incomplete penetrance; extends MYBPC3 mutational spectrum beyond myosin/titin binding domains.
Study Design
Type
Observational
Structured PICO
P
Population
A South African proband with hypertrophic cardiomyopathy and his three adult children identified during mutation screening.
O
Outcome
Detection of mutations in the cardiac myosin binding protein C (MyBP-C) gene
Identifies a novel missense mutation (Arg654His) in MyBP-C associated with hypertrophic cardiomyopathy that does not affect the myosin or titin binding domains.
Cite This Study
Moolman‐Smook et al. (1998) conducted an observational in Hypertrophic cardiomyopathy. Arg654His missense mutation in MyBP-C was evaluated on Hypertrophic cardiomyopathy phenotype. A novel Arg654His missense mutation in MyBP-C was identified in a South African proband with hypertrophic cardiomyopathy and his three adult children, though only the proband was markedly affected.