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Article

Adolescent-onset multisystem proteinopathy due to a novel VCP variant.

Neuromuscular disorders : NMD - 1 Jan 2024

Soontrapa Pannathat, Seven Nathan A, Liewluck Teerin, Cui Gaofeng, Mer Georges, Milone Margherita

Abstract excerpt

Valosin-containing protein (VCP) pathogenic variants are the most common cause of multisystem proteinopathy presenting with inclusion body myopathy, amyotrophic lateral sclerosis/frontotemporal dementia, and Paget disease of bone in isolation or in combination. We report a patient manifesting with adolescent-onset myopathy caused by a novel heterozygous VCP variant (c.467G > T, p.Gly156Val). The myopathy...

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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 38159460
DOI: 10.1016/j.nmd.2023.11.014

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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