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Article

A case report comparing clinical, imaging and neuropsychological assessment findings in twins discordant for the VCP p.R155C mutation.

Neuromuscular disorders : NMD - 1 Feb 2015

Surampalli Abhilasha, Gold Brian T, Smith Charles, Castellani Rudy J, Khare Manaswitha, Yu Hon, Nguyen Celeste, Lan Mary, Wencel Marie, Wigal Sharon, Caiozzo Vince, Kimonis Virginia

Abstract excerpt

Inclusion body myopathy, Paget disease of bone and/or frontotemporal dementia is an autosomal dominant disease caused by mutations in the Valosin Containing Protein (VCP) gene. We compared clinical findings including MRI images and neuropsychological assessment data in affected and unaffected twin brothers aged 56 years from a family with the p.R155C VCP gene mutation. The affected twin presented with a 10 year...

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Identifiers

PMID: 25582679
DOI: 10.1016/j.nmd.2014.10.003
PMCID: PMC5591024

Genes

VCP

Variants

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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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