Article
Screening single nucleotide changes to tropomyosin to identify novel cardiomyopathy mutants.
Journal of molecular and cellular cardiology - 1 Jun 2025
Wen Jian, Campbell Stuart, Moore Jeffrey, Lehman William, Rynkiewicz Michael
Abstract excerpt
Inherited cardiomyopathy is a broad class of heart disease that includes pathological cardiac remodeling such as hypertrophic and dilated cardiomyopathy, affecting 1/250-1/500 people worldwide. In many cases, mutations in proteins that make up the sarcomere, the basic subcellular unit of contraction, alter thin filament regulation and are the root cause of hypertrophic and dilated cardiomyopathy. Initially,...
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