A Missense Variation in <i>PHACTR2</i> Associates with Impaired Actin Dynamics, Dilated Cardiomyopathy, and Left Ventricular Non-Compaction in Humans

A Missense Variation in <i>PHACTR2</i> Associates with Impaired Actin Dynamics, Dilated Cardiomyopathy, and Left Ventricular Non-Compaction in Humans

Dilated cardiomyopathy (DCM) with left ventricular non-compaction (LVNC) is a primary myocardial disease leading to contractile dysfunction, progressive heart failure, and excessive risk of sudden cardiac death. Using whole-exome sequencing to investigate a possible genetic cause of DCM with LVNC in...

Full description

Bibliographic Details
Main Authors: Pierre Majdalani, Aviva Levitas, Hanna Krymko, Leonel Slanovic, Alex Braiman, Uzi Hadad, Salam Dabsan, Amir Horev, Raz Zarivach, Ruti Parvari
Format: Article
Language:English
Published: MDPI AG 2023-01-01
Series:International Journal of Molecular Sciences
Subjects:
dilated cardiomyopathy
left ventricular non-compaction
<i>PHACTR2</i>
actin monomer pool
actin polymerization
cell movement
Online Access:https://www.mdpi.com/1422-0067/24/2/1388

Internet

https://www.mdpi.com/1422-0067/24/2/1388

Similar Items