Article
Hypertrophic cardiomyopathy clinical phenotype is independent of gene mutation and mutation dosage.
PloS one - 1 Jan 2017
Viswanathan Shiv Kumar, Sanders Heather K, McNamara James W, Jagadeesan Aravindakshan, Jahangir Arshad, Tajik A Jamil, Sadayappan Sakthivel
Abstract excerpt
Over 1,500 gene mutations are known to cause hypertrophic cardiomyopathy (HCM). Previous studies suggest that cardiac β-myosin heavy chain (MYH7) gene mutations are commonly associated with a more severe phenotype, compared to cardiac myosin binding protein-C (MYBPC3) gene mutations with milder phenotype, incomplete penetrance and later age of onset. Compound mutations can worsen the phenotype. This study aimed...
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