Inclusion body myopathy and Paget disease is linked to a novel mutation in the VCP gene
- 25 October 2005
- journal article
- Published by Wolters Kluwer Health in Neurology
- Vol. 65 (8) , 1304-1305
Abstract
Mutations in the valosin-containing protein (VCP) on chromosome 9p13-p12 were recently found to be associated with hereditary inclusion body myopathy, Paget disease of the bone, and frontotemporal dementia (IBMPFD). We identified a novel missense mutation in the VCP gene (R159H; 688G>A) segregating with this disease in an Austrian family of four affected siblings, who exhibited progressive proximal myopathy and Paget disease of the bone but without clinical signs of dementia.Keywords
This publication has 8 references indexed in Scilit:
- Mutant valosin‐containing protein causes a novel type of frontotemporal dementiaAnnals of Neurology, 2005
- Molecular perspectives on p97–VCP: progress in understanding its structure and diverse biological functionsJournal of Structural Biology, 2004
- Clinical and genetic heterogeneity in chromosome 9p associated hereditary inclusion body myopathy: exclusion of GNE and three other candidate genesNeuromuscular Disorders, 2003
- Inclusion-body myositis and myopathies: different etiologies, possibly similar pathogenic mechanismsCurrent Opinion in Neurology, 2002
- Heterogeneity in familial dominant Paget disease of bone and muscular dystrophyAmerican Journal of Medical Genetics, 2002
- Clinical Delineation and Localization to Chromosome 9p13.3–p12 of a Unique Dominant Disorder in Four Families: Hereditary Inclusion Body Myopathy, Paget Disease of Bone, and Frontotemporal DementiaMolecular Genetics and Metabolism, 2001
- VCP/p97 in abnormal protein aggregates, cytoplasmic vacuoles, and cell death, phenotypes relevant to neurodegenerationCell Death & Differentiation, 2001
- Valosin-containing protein is a multi-ubiquitin chain-targeting factor required in ubiquitin–proteasome degradationNature Cell Biology, 2001