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Article

VCP-related myopathy: a case series and a review of literature.

Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology - 1 Jan 2023

Iannibelli Eliana, Gibertini Sara, Cheli Marta, Blasevich Flavia, Cavaliere Andrea, Riolo Giorgia, Ruggieri Alessandra, Maggi Lorenzo

Abstract excerpt

The valosin-containing protein (VCP), a widely expressed protein, controls the ubiquitin-proteasome system, endolysosomal sorting, and autophagy to maintain cellular proteostasis. Frontotemporal dementia (FTD), inclusion body myopathy, and Paget's disease of the bone (PDB) are all caused by dominant missense mutations in the VCP gene, which interfere with these mechanisms and cause a multisystem proteinopathy. We...

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Identifiers

PMID: 37091525
DOI: 10.36185/2532-1900-244
PMCID: PMC10115396

Provenance

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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