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Titin Allelic Expression and Protein Processing Pathways in Early-Stage Dilated Cardiomyopathy Patients With

Sophie L V M Stroeks1,2, Daan van Beek3, Michiel E Adriaens3

  • 1Department of Cardiology, Cardiovascular Research Institute (CARIM), Maastricht, The Netherlands (S.L.V.M.S., J.A.J.V.).

Circulation. Genomic and Precision Medicine
|January 30, 2023
PubMed
Abstract

No abstract available in PubMed .

Keywords:
RNAallelescardiomyopathyhaploinsufficiencysequence analysis

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Hypertrophic cardiomyopathy, or HCM, is an autosomal dominant genetic disorder characterized by asymmetric left ventricular hypertrophy without ventricular dilation. It is more common in men and is typically diagnosed in young, athletic adults.EtiologyHCM is primarily genetic and is caused by mutations in genes encoding sarcomeric proteins. Researchers have identified over 1400 mutations across at least 11 different genes. Among these, the most frequently occurring mutations are found in the...
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Dilated cardiomyopathy, or DCM, is a progressive myocardial disorder characterized by ventricular chamber dilation and contractile dysfunction.EtiologyVarious factors can cause DCM, including hypertension and heavy alcohol intake, which contribute to the weakening and enlargement of the heart muscle. Viral infections, such as Coxsackievirus B, adenoviruses, and influenza, can lead to DCM by causing inflammation and damage to heart tissue. Certain chemotherapeutic agents, including daunorubicin,...
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