Article
Valosin-containing protein disease: inclusion body myopathy with Paget's disease of the bone and fronto-temporal dementia.
Neuromuscular disorders : NMD - 1 May 2009
Weihl Conrad C, Pestronk Alan, Kimonis Virginia E
Abstract excerpt
Mutations in valosin-containing protein (VCP) cause inclusion body myopathy (IBM) associated with Paget's disease of the bone (PDB) and fronto-temporal dementia (FTD) or IBMPFD. Although IBMPFD is a multisystem disorder, muscle weakness is the presenting symptom in greater than half of patients and an isolated symptom in 30%. Patients with the full spectrum of the disease make up only 12% of those affected;...
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