Human genes for inclusion body myopathy with Paget disease of bone and frontotemporal dementia
Inclusion body myopathy with Paget disease of bone and frontotemporal dementia [DOID:0050881]
A syndrome that is characterized by progressive proximal muscle weakness, steolytic bone lesions consistent with Paget disease, and frontotemporal dementia and has_material_basis_in mutation in the valosin containing protein.
Synonyms: inclusion body myopathy with Paget disease of bone and frontotemporal dementia, DOID:0050881, inclusion body myopathy with Paget disease of bone and frontotemporal dementias, IBMPFD, inclusion body myopathy with Paget's disease of bone and frontotemporal dementia ...