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Article

Functional assays reveal the pathogenic mechanism of a de novo tropomyosin variant identified in patient with dilated cardiomyopathy.

Journal of molecular and cellular cardiology - 1 Mar 2023

Barrick Samantha K, Garg Ankit, Greenberg Lina, Zhang Shanshan, Lin Chieh-Yu, Stitziel Nathan O, Greenberg Michael J

Abstract excerpt

Dilated cardiomyopathy (DCM) is a leading cause of heart failure and a major indicator for heart transplant. Human genetic studies have identified over a thousand causal mutations for DCM in genes involved in a variety of cellular processes, including sarcomeric contraction. A substantial clinical challenge is determining the pathogenicity of novel variants in disease-associated genes. This challenge of...

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Identifiers

PMID: 36739943
DOI: 10.1016/j.yjmcc.2023.01.014
PMCID: PMC11285302

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