From genotype to phenotype: a longitudinal study of a patient with hypertrophic cardiomyopathy due to a mutation in the MYBPC3 gene.

Abstract excerpt

Many of the links between the genotype and phenotype in hypertrophic cardiomyopathy remain unexplained. In this unique longitudinal study we have investigated a patient with classical clinical phenotypic features of hypertrophic obstructive cardiomyopathy, with a known mutation in MYBPC3, the most commonly affected gene in this disease. By collecting cardiac tissue from the patient at the time of surgical...

Topics

Share this publication in a Topic to start or enrich a Post.

• Share to Cardiomyopathy and Myosin Studies
• Share to Cardiomyopathy, Hypertrophic