Article
Novel valosin containing protein mutation in a Swiss family with hereditary inclusion body myopathy and dementia.
Neuromuscular disorders : NMD - 1 Feb 2013
Peyer Anne-Kathrin, Kinter Jochen, Hench Jürgen, Frank Stephan, Fuhr Peter, Thomann Sandra, Fischmann Arne, Kneifel Stefan, Camaño Pilar, López de Munain Adolfo, Sinnreich Michael, Renaud Susanne
Abstract excerpt
Inclusion body myopathy associated with Paget's disease of the bone and frontotemporal dementia is a rare but highly penetrant autosomal dominant progressive disorder linked to mutations in valosin containing protein (VCP). Here, we characterize a novel mutation in the linker 1 domain of VCP leading to inclusion body myopathy and/or frontotemporal dementia in 3 generations of a Swiss family. A detailed history of...
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