Article
Inclusion body myopathy and frontotemporal dementia caused by a novel VCP mutation.
Neurobiology of aging - 1 May 2009
Bersano Anna, Del Bo Roberto, Lamperti Costanza, Ghezzi Serena, Fagiolari Gigliola, Fortunato Francesco, Ballabio Elena, Moggio Maurizio, Candelise Livia, Galimberti Daniela, Virgilio Roberta, Lanfranconi Silvia, Torrente Yvan, Carpo Marinella, Bresolin Nereo, Comi Giacomo P, Corti Stefania
Abstract excerpt
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 of the distal upper and proximal lower limbs since the age...
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