Article
Bone scan findings of Paget's disease of bone in patients with VCP Multisystem Proteinopathy 1.
Scientific reports - 11 Mar 2024
Columbres Rod Carlo Agram, Din Sarosh, Gibbs Liliane, Kimonis Virginia
Abstract excerpt
Multisystem Proteinopathy 1 (MSP1) disease is a rare genetic disorder caused by mutations in the Valosin-Containing Protein (VCP) gene with clinical features of inclusion body myopathy (IBM), frontotemporal dementia (FTD), and Paget's disease of bone (PDB). We performed bone scan imaging in twelve patients (6 females, 6 males) with confirmed VCP gene mutation six (50%) of which has myopathy alone, four (33%) with...
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