Article
A Brazilian family with hereditary inclusion body myopathy associated with Paget disease of bone and frontotemporal dementia.
Brazilian journal of medical and biological research = Revista brasileira de pesquisas medicas e biologicas - 1 Apr 2011
Fanganiello R D, Kimonis V E, Côrte C C, Nitrini R, Passos-Bueno M R
Abstract excerpt
Inclusion body myopathy associated with Paget disease and frontotemporal dementia (IBMPFD) is a progressive and usually misdiagnosed autosomal dominant disorder. It is clinically characterized by a triad of features: proximal and distal myopathy, early onset Paget disease of bone (PDB), and frontotemporal dementia (FTD). It is caused by missense mutations in the valosin-containing protein (VCP) gene. We describe...
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