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eRAM

encyclopedia of Rare Disease Annotation for Precision Medicine




Disease pick disease
Comorbidity C0029401|paget disease of bone
Sentences 5
PubMedID- 20490813 Mutations in valosin-containing protein (vcp) cause inclusion body myopathy and paget disease of bone with frontotemporal dementia, in which 20–100% of patients can develop ftd [10, 53, 56].
PubMedID- 22852081 Mutations in vcp have previously been identified in patients with inclusion body myopathy associated with paget disease of bone and frontotemporal dementia (ibmpfd) [91].
PubMedID- 24598262 Mutations in human p97 (known as vcp) are linked to neurodegenerative disorders, such as amyotrophic lateral sclerosis [4] and inclusion body myopathy associated with paget disease of bone and frontotemporal dementia (ibmpfd) [5].
PubMedID- 25698929 Support for this notion comes from mitochondrial dysfunction associated with amyotrophic lateral sclerosis and hereditary inclusion body myopathy associated with paget disease of bone and frontotemporal dementia (ibmpfd) caused by p97 mutation.
PubMedID- 20865169 However, mutations that impair vcp function are associated with inclusion body myopathy associated with paget disease of bone and frontotemporal dementia (ibmpfd) [71], [72].

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