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Article

[An advanced case of myopathy and dementia with a new mutation in the valosin-containing protein gene].

Rinsho shinkeigaku = Clinical neurology - 1 Jan 2013

Kamiyama Tsutomu, Sengoku Renpei, Sasaki Masayuki, Hayashi Yukiko, Nishino Ichizo, Mochio Soichiro, Iguchi Yasuyuki

Abstract excerpt

We report a 51-year-old man with myopathy and dementia probably caused by a novel mutation of the valosin-containing protein (VCP) gene, in the form of a p.Ala439Pro substitution. At 43 years old, he presented at least 2-year history of weakness of right ankle dorsiflexion. Findings from muscle b...

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Source

Identifiers

PMID: 23782825
DOI: 10.5692/clinicalneurol.53.465

Genes

GNE
VCP

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-23782825-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

Related research

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Research trail→

Click a neighbor to travelStep 1 · 12 closest

[An advanced case of myopathy and dementia with a new mutation in the valosin-containing protein gene].PMID 23782825Read ↗

[Inclusion Body Myopathy, Paget's Disease, and Fronto-temporal Dementia: a VCP-related Multi-systemic Proteinopathy].Semantic proximity Read ↗

[Inclusion body myopathy with Paget's disease of bone and frontotemporal dementia].Semantic proximity Read ↗

VCP-related myopathy: a case series and a review of literature.Semantic proximity Read ↗

Distinct distal myopathy phenotype caused by VCP gene mutation in a Finnish family.Semantic proximity Read ↗

A Brazilian family with inclusion body myopathy associated with Paget's disease of bone and frontotemporal dementia linked to the VCP pGly97Glu mutation.Semantic proximity Read ↗

A Novel Mutation (D395A) in Valosin-Containing Protein Gene Is Associated With Early Onset Frontotemporal Dementia in an Italian FamilySemantic proximity Read ↗

Novel valosin containing protein mutation in a Swiss family with hereditary inclusion body myopathy and dementia.Semantic proximity Read ↗

Genotype–phenotype correlations in valosin-containing protein disease: a retrospective muticentre studySemantic proximity Read ↗

Valosin-containing protein Asp395Gly mutation in a patient with frontotemporal dementia: a case report.Semantic proximity Read ↗

Clinical outcome in 19 French and Spanish patients with valosin-containing protein myopathy associated with Paget's disease of bone and frontotemporal dementia.Semantic proximity Read ↗

Inclusion body myopathy and frontotemporal dementia caused by a novel VCP mutation.Semantic proximity Read ↗

Clinical spectrum of valosin containing protein (VCP)-opathy.Semantic proximity Read ↗

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