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NEUROLOGY 2005;65:1304-1305
© 2005 American Academy of Neurology
Brief Communications

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

D. Haubenberger, MD, R. E. Bittner, MD, S. Rauch-Shorny, MD, F. Zimprich, MD, PhD, C. Mannhalter, PhD, L. Wagner, MD, I. Mineva, PhD, K. Vass, MD, E. Auff, MD and A. Zimprich, MD

From the Departments of Neurology (Drs. Haubenberger, F. Zimprich, Vass, Auff, and A. Zimprich), Neuromuscular Research Department, Center for Anatomy and Cell Biology (Dr. Bittner), Institute of Medical and Chemical Laboratory Diagnostics (Dr. Mannhalter), Department of Medicine III (Drs. Wagner and Mineva), Medical University of Vienna; and the Ludwig Boltzmann Institute for Neuromuscular Diseases (Dr. Rauch-Shorny), Vienna, Austria.

Address correspondence and reprint requests to Dr. Alexander Zimprich, Universitätsklinik für Neurologie, Währinger Gürtel 18-20, A-1097 Vienna, Austria; e-mail: alexander.zimprich{at}meduniwien.ac.at

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.

Disclosure: The authors report no conflicts of interest.

Received May 3, 2005. Accepted in final form June 29, 2005.




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