Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Clinical spectrum of valosin containing protein (VCP)-opathy.

Muscle & nerve - 1 Jun 2016

Kazamel Mohamed, Sorenson Eric J, McEvoy Kathleen M, Jones Lyell K, Leep-Hunderfund Andrea N, Mauermann Michelle L, Milone Margherita

Abstract excerpt

INTRODUCTION: Valosin containing protein (VCP) mutations cause a rare disorder characterized by hereditary inclusion body myopathy, Paget disease of bone (PDB), and frontotemporal dementia (FTD) with variable penetrance. VCP mutations have also been linked to amyotrophic lateral sclerosis and Charcot-Marie-Tooth disease type 2. METHODS: Review of clinical, serological, electrophysiological, and myopathological...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Adenosine Triphosphatases
Share to Cell Cycle Proteins

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Family Health

Share to Frontotemporal Dementia

Share to Muscle, Skeletal

Share to Mutation

Share to Osteitis Deformans

Share to Valosin Containing Protein

Source

Identifiers

PMID: 26574898
DOI: 10.1002/mus.24980

Genes

VCP

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.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Clinical spectrum of valosin containing protein (VCP)-opathy.PMID 26574898Read ↗

Valosin-containing protein disease: inclusion body myopathy with Paget's disease of the bone and fronto-temporal dementia.Semantic proximity Read ↗

The multiple faces of valosin-containing protein-associated diseases: inclusion body myopathy with Paget's disease of bone, frontotemporal dementia, and amyotrophic lateral sclerosis.Semantic proximity Read ↗

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

Valosin Containing Protein Associated Fronto-Temporal Lobar Degeneration:Clinical Presentation, Pathologic Features and PathogenesisSemantic 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 ↗

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 ↗

Provisional practice recommendation for the management of myopathy in VCP-associated multisystem proteinopathy.Semantic proximity Read ↗

Genotype-phenotype study in patients with valosin-containing protein mutations associated with multisystem proteinopathy.Semantic proximity Read ↗

Novel valosin-containing protein mutations associated with multisystem proteinopathy.Semantic proximity Read ↗

One family, one gene and three phenotypes: A novel VCP (valosin-containing protein) mutation associated with myopathy with rimmed vacuoles, amyotrophic lateral sclerosis and frontotemporal dementia.Semantic proximity Read ↗

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

Phenotypic variability in three families with valosin-containing protein mutation.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.