Inclusion body myopathy and Paget disease is linked to a novel mutation in the VCP gene.
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Haubenberger D, Bittner RE, Rauch-Shorny S, Zimprich F, Mannhalter C, Wagner L, Mineva I, Vass K, Auff E, Zimprich A
Inclusion body myopathy and Paget disease is linked to a novel mutation in the VCP gene.
Neurology. 2005 Oct 25;65(8):1304-5.
- PubMed ID
- 16247064 [ View in PubMed]
- 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.