Why the study?
What is the prevalence and pathogenicity of PLN mutations in Polish patients with cardiomyopathy?
Population
161 unrelated Polish subjects referred for genetic testing for cardiomyopathies and 200 healthy subjects…
Comparison
Genetic testing for PLN mutations vs 200 healthy matched controls
Design
Cohort
Authors
Loading...
PLN mutations remain rare in Polish cardiomyopathy; extends evidence for residue 9 hotspot and low null penetrance but leaves broader screening implications open.
What is the prevalence and pathogenicity of PLN mutations in Polish patients with cardiomyopathy?
PLN mutations are a rare cause of cardiomyopathy in Poland, with the 9th residue acting as a mutation hot spot and heterozygous null mutations demonstrating low penetrance.
Truszkowska et al. (2015) studied this question.
Synapse has enriched 5 closely related papers on similar clinical questions. Consider them for comparative context: