Article
Inclusion body myopathy and Paget disease is linked to a novel mutation in the VCP gene.
Neurology - 25 Oct 2005
Haubenberger D, Bittner R E, Rauch-Shorny S, Zimprich F, Mannhalter C, Wagner L, Mineva I, Vass K, Auff E, Zimprich A
Abstract excerpt
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...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.