Altered C10 domain in cardiac myosin binding protein-C results in hypertrophic cardiomyopathy
Abstract
Aims A 25-base pair deletion in the cardiac myosin binding protein-C (cMyBP-C) gene (MYBPC3), proposed to skip exon 33, modifies the C10 domain (cMyBP-CΔC10mut) and is associated with hypertrophic cardiomyopathy (HCM) and heart failure, affecting approximately 100 million South Asians. However, the molecular mechanisms underlying the pathogenicity of cMyBP-CΔC10mutin vivo are unknown. We hypothesized that expression of cMyBP-CΔC10mut exerts a...
Paper Details
Title
Altered C10 domain in cardiac myosin binding protein-C results in hypertrophic cardiomyopathy
Published Date
May 3, 2019
Journal
Volume
115
Issue
14
Pages
1986 - 1997
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