IBMPFD
MIM.605382 9p13.3-p12
inclusion body myopathy with early-onset paget disease and frontotemporal dementia
Synopsis
autosomal dominant limb-girdle muscular dystrophy (LGMD)
early-onset Paget disease of bone (PDB)
cardiomyopathy
Etiology
germline mutations in VCP gene (MIM.601203)
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