Characteristics of VCP mutation-associated cardiomyopathy
Abstract
VCP associated inclusion body myopathy, Paget's disease of bone, and Frontotemporal Dementia (IBMPFD, VCP disease, or multisystem proteinopathy type 1 (MSP1)) is an autosomal dominant disease caused by missense mutations in the VCP gene, which plays a crucial role in ubiquitin-proteasome dependent degradation of cytosolic proteins. Those diagnosed with the disorder often suffer from cardiovascular complications in the advanced stages. We...
Paper Details
Title
Characteristics of VCP mutation-associated cardiomyopathy
Published Date
Aug 1, 2021
Journal
Volume
31
Issue
8
Pages
701 - 705
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