PedAM

Pediatric Disease Annotations & Medicines

Disease	dementia
Phenotype	C0029401\|paget\'s disease of bone
Sentences	8
PubMedID- 23349634	Mutations in the vcp gene have been linked to autosomal dominant disorders inclusion body myopathy with paget's disease of bone and fronto-temporal dementia (ibmpfd) and familial amyotrophic lateral sclerosis (als) [47], [48].
PubMedID- 24130765	Inclusion body myopathy associated with paget's disease of bone and frontotemporal dementia (ibmpfd) and 2% of familial amyotrophic lateral sclerosis (fals) cases are caused by mutations in the valosin containing protein (vcp) [1], [2].
PubMedID- 22449146	Mutations in the vcp gene result in inclusion body myopathy with paget's disease of bone and frontotemporal dementia (ibmpfd) and amyotrophic lateral sclerosis (als).
PubMedID- 22898872	More recently, mutations in the valosin-containing protein (vcp) gene linked to the human genetic disease, inclusion body myopathy associated with paget's disease of bone and frontotemporal dementia (ibmpfd), were found also to be associated with als in some patients.
PubMedID- 20957154	Inclusion body myopathy associated with paget's disease of bone and frontotemporal dementia (ibmpfd, omim 167320) is characterized by progressive muscle weakness, bone deformities and extensive neuro-degeneration [1].
PubMedID- 21798100	Similar findings may be observed in biopsies from patients with valosin-containing protein (vcp)-related inclusion body myopathy associated with paget's disease of bone and frontotemporal dementia which, therefore, should not be excluded as a differential diagnosis [78].
PubMedID- 22577517	Autosomal dominant mutations in the vcp gene have been identified in the inclusion body myopathy associated with paget's disease of bone and frontotemporal dementia (ibmpfd; mim167320).
PubMedID- 21304887	Inclusion body myopathy with paget's disease of bone and frontotemporal dementia (ibmpfd) is a progressive autosomal dominant disease, characterized by the adult onset of muscle degeneration, abnormal bone metabolism, and drastic behavior changes.

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