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  • Title: Paget's disease: epidemiology and pathophysiology.
    Author: Seton M.
    Journal: Curr Osteoporos Rep; 2008 Dec; 6(4):125-9. PubMed ID: 19032921.
    Abstract:
    Paget's disease of bone is a focal disorder of aging bone. The classic late-onset Paget's disease is often caused by a P392L mutation in the gene SQSTM1, which disturbs signaling pathways in osteoclasts on cell activation. This prevalent mutation is neither necessary nor sufficient to cause Paget's disease. Its identification, along with the elucidation of other mutations underlying early-onset Paget's and Paget's disease seen in association with inclusion body myopathy and frontotemporal dementia, have redefined our understanding of genetic disorders of bone remodeling by emphasizing the importance of environmental determinants in their pathophysiology.
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