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Article

A novel VCP mutation underlies scapuloperoneal muscular dystrophy and dropped head syndrome featuring lobulated fibers.

Muscle & nerve - 1 Aug 2014

Liewluck Teerin, Milone Margherita, Mauermann Michelle L, Castro-Couch Melissa, Cerhan Jane H, Murthy Naveen S

Abstract excerpt

INTRODUCTION: Valosin-containing protein (VCP) is a ubiquitously expressed, multifunctional AAA-ATPase protein. Its dominant mutations cause hereditary inclusion body myopathy associated with Paget disease of bone and frontotemporal dementia (IBMPFD) or amyotrophic lateral sclerosis. The pattern of muscle weakness in IBMPFD patients is variable and includes limb-girdle, scapuloperoneal, distal, or axial...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 24838343
DOI: 10.1002/mus.24290

Genes

VCP

Variants

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

Source receipt: pubmed, retrieved 7 Sept 2026.

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