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Article

Characteristics of VCP mutation-associated cardiomyopathy.

Neuromuscular disorders : NMD - 1 Aug 2021

Wang Stephani C, Smith Charles D, Lombardo Dawn M, Kimonis Virginia

Abstract excerpt

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...

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Identifiers

PMID: 34244020
DOI: 10.1016/j.nmd.2021.06.005

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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