Disparate Molecular Properties of Two Hypertrophic Cardiomyopathy-Associated cMyBP-C Mutants Reveal Distinct Pathogenic Mechanisms Beyond Haploinsufficiency

Disparate Molecular Properties of Two Hypertrophic Cardiomyopathy-Associated cMyBP-C Mutants Reveal Distinct Pathogenic Mechanisms Beyond Haploinsufficiency

<b>Background/Objectives</b>: Hypertrophic cardiomyopathy (HCM) is a common genetic cardiac disorder marked by abnormal thickening of the left ventricular myocardium, often leading to arrhythmias and heart failure. Mutations in sarcomeric protein genes, particularly <i>MYBPC3</i...

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Main Authors: Angelos Thanassoulas, Emna Riguene, Maria Theodoridou, Laila Barrak, Hamad Almaraghi, Mohammed Hussain, Sahar Isa Da’as, Mohamed A. Elrayess, F. Anthony Lai, Michail Nomikos
Format: Article
Language:English
Published: MDPI AG 2025-04-01
Series:Biomedicines
Subjects:
hypertrophic cardiomyopathy
HCM
<i>MyBPC3</i>
cMyBP-C
cardiac disease
Online Access:https://www.mdpi.com/2227-9059/13/5/1010
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