2. Academic Validation
  3. Inclusion body myopathy and Paget disease is linked to a novel mutation in the VCP gene

Inclusion body myopathy and Paget disease is linked to a novel mutation in the VCP gene

  • Neurology. 2005 Oct 25;65(8):1304-5. doi: 10.1212/01.wnl.0000180407.15369.92.
D Haubenberger 1,  R E Bittner,  S Rauch-Shorny,  F Zimprich,  C Mannhalter,  L Wagner,  I Mineva,  K Vass,  E Auff,  A Zimprich
Affiliations

Affiliation

  • 1 Department of Neurology, Medical University of Vienna, Vienna, Austria.
PMID: 16247064 DOI: 10.1212/01.wnl.0000180407.15369.92
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.

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