IBMPFDInclusion Body Myopathy with Early-Onset Paget Disease and Frontotemporal Dementia
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These disorders include hereditary myopathies and acquired myopathies, such as GNE myopathy, inclusion body myopathy with Paget disease of bone, frontotemporal dementia (IBMPFD),[sup][1] oculopharyngeal muscular dystrophy (OPMD),[sup][2] oculopharyngodistal myopathy (OPDM)[sup][3] sporadic inclusion body myositis (s-IBM),[sup][4] and so forth.
IBMPFD is characterized by variable expression of slow, progressive muscle weakness, Paget's disease of bone with abnormal bone homeostasis, and frontotemporal dementia with early behavioral or language changes caused by valosin-containing protein gene ( VCP ).[sup][1],[11] However, bone X-ray in the proband and his mother showed no osteolysis, osteosclerosis or cortical thickening, and no mutations were found in VCP gene.
A novel VCP mutation as the cause of atypical IBMPFD in a Chinese family.