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pubmed-article:16790606pubmed:abstractTextHereditary inclusion body myopathy (IBMPFD) with Paget disease of bone (PDB) and frontotemporal dementia (FTD) is a rare multisystem disorder with autosomal dominant inheritance. Recently, missense mutations in the gene encoding valosin-containing protein (VCP) have been found in individuals with IBMPFD. VCP/P97, which exerts a variety of cellular functions, plays a key role in the ubiquitin-proteasome dependent degradation of cytosolic proteins and in the retrotranslocation of misfolded proteins from the endoplasmic reticulum into the cytoplasm.lld:pubmed
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pubmed-article:16790606pubmed:articleTitleValosin-containing protein gene mutations: clinical and neuropathologic features.lld:pubmed
pubmed-article:16790606pubmed:affiliationDepartment of Neurology, Rouen University Hospital, France.lld:pubmed
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