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Article

A cross-sectional analysis of clinical evaluation in 35 individuals with mutations of the valosin-containing protein gene.

Neuromuscular disorders : NMD - 1 Sept 2018

Plewa Jake, Surampalli Abhilasha, Wencel Marie, Milad Merit, Donkervoort Sandra, Caiozzo Vincent J, Goyal Namita, Mozaffar Tahseen, Kimonis Virginia

Abstract excerpt

Inclusion body myopathy (IBM) associated with Paget disease of the bone and frontotemporal dementia or IBMPFD is an autosomal dominant degenerative disorder caused by mutations in the valosin-containing protein (VCP) gene. We aim to establish a detailed clinical phenotype of VCP disease amongst 35 (28 affected individuals, 7 presymptomatic gene carriers) individuals versus 14 unaffected first-degree relatives in...

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Source

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Identifiers

PMID: 30097247
DOI: 10.1016/j.nmd.2018.06.007
PMCID: PMC6490182

Genes

VCP

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026.

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A cross-sectional analysis of clinical evaluation in 35 individuals with mutations of the valosin-containing protein gene.PMID 30097247Read ↗

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Inclusion body myopathy associated with Paget disease of bone and frontotemporal dementia is caused by mutant valosin-containing protein.Semantic proximity Read ↗

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