Inclusion body myopathy and frontotemporal dementia caused by a novel VCP mutation.

Abstract

Hereditary inclusion body myopathy (IBM) with Paget's disease of the bone (PDB) and frontotemporal dementia (FTD) is a rare autosomal dominant disease caused by mutations in the valosin-containing protein (VCP) gene. We report a novel heterozygous VCP gene mutation (R159C) in a 69-year-old Italian patient presenting with slowly progressive muscle weakness… (More)

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Cite this paper

@article{Bersano2009InclusionBM, title={Inclusion body myopathy and frontotemporal dementia caused by a novel VCP mutation.}, author={Anna Bersano and Roberto del Bo and Costanza Lamperti and Serena Ghezzi and Gigliola Fagiolari and Francesco Fortunato and Elena Ballabio and Maurizio Moggio and Livia Candelise and D Galimberti and Roberta Virgilio and Silvia Lanfranconi and Yvan Torrente and Marinella Carpo and Nereo Bresolin and Giacomo Comi and Stefania Corti}, journal={Neurobiology of aging}, year={2009}, volume={30 5}, pages={752-8} }