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PedAM

Pediatric Disease Annotations & Medicines




Disease myopathy
Phenotype C0029401|paget\'s disease of the bone
Sentences 22
PubMedID- 24196964 Single amino acid substitutions in p97 have been linked to a clinical multiple-disorder condition known as inclusion body myopathy associated with paget's disease of the bone and frontotemporal dementia.
PubMedID- 24829604 Inclusion-body myopathy (ibm) with paget's disease of the bone (pdb) and frontotemporal dementia (ftd) (ibmpfd; online mendelian inheritance in man #167320) is a rare, late-onset autosomal dominant disorder arising from missense mutations in a gene on chromosome 9p21.1-p12 coding for valosin-containing protein (vcp).1 vcp, also known as p97, is a member of the atpases associated with various cellular activities (aaa) family of proteins and is highly abundant, accounting for about 1% of total cellular protein in humans.2 this chaperone protein consists of two aaa domains (d1 and d2) that can bind and hydrolyze adenosine triphosphate.
PubMedID- 21552523 Recent analyses on tissues from patients suffering from inclusion body myopathy (ibm) associated with paget's disease of the bone and fronto-temporal dementia (pfd) appear to support this hypothesis [38].
PubMedID- 23140793 Inclusion body myopathy associated with paget's disease of the bone and frontotemporal dementia is a rare but highly penetrant autosomal dominant progressive disorder linked to mutations in valosin containing protein (vcp).
PubMedID- 23250913 Mutations in valosin-containing protein (vcp) cause inclusion body myopathy (ibm) associated with paget's disease of the bone, fronto-temporal dementia and amyotrophic lateral sclerosis (ibmpfd/als).
PubMedID- 26112410 Moreover, nfkb2 mrna levels were aberrantly down-regulated in patients with inclusion body myopathy associated with paget's disease of the bone and frontotemporal dementia (ibmpfd), a disease caused by mutation of p97.
PubMedID- 25852467 Ibmpfd, inclusion body myopathy with paget's disease of the bone and frontotemporal dementia.
PubMedID- 22518139 Mutations in p97/vcp cause inclusion body myopathy associated with paget's disease of the bone and frontotemporal dementia (ibmpfd) [107].
PubMedID- 25658828 The p97/cdc48 protein is essential for viability, but single site variants in human p97 have been linked to amyotrophic lateral sclerosis (als) [17] and to the multiple-disorder known as inclusion body myopathy associated with paget's disease of the bone and frontotemporal dementia (ibmpfd) [18] [19].
PubMedID- 22579784 Missense mutations that occur at the interface between two functional domains in the aaa protein p97 lead to suboptimal performance in its enzymatic activity and impaired intracellular functions, causing human disorders such as inclusion body myopathy associated with paget's disease of the bone and frontotemporal dementia (ibmpfd).
PubMedID- 24348398 Inclusion body myopathy with paget's disease of the bone and frontotemporal dementia (ibmpfd) is a rare late-onset autosomal dominant multi-system disorder, with variable penetrance of three typical clinical components: inclusion body myopathy, paget's disease and frontotemporal dementia (behavioural form).
PubMedID- 20410287 Inclusion body myopathy associated with paget's disease of the bone and fronto-temporal dementia (ibmpfd) is a progressive autosomal dominant disorder caused by mutations in p97/vcp (valosin-containing protein).
PubMedID- 26511028 The same amino acid transformation as that of this patient has been reported to be involved in the pathogenesis of inclusion body myopathy with paget's disease of the bone and frontotemporal dementia.
PubMedID- 24167726 More importantly, mutations in cdc48 have been linked directly to neurodegenerative diseases including inclusion body myopathy associated with paget's disease of the bone and frontotemporal dementia (ibmpfd) and amyotrophic lateral sclerosis (als) [85, 86, 104].
PubMedID- 22900631 Background and purpose: the phenotype of ibmpfd [inclusion body myopathy with paget's disease of the bone and frontotemporal dementia (ftd)] associated with valosin-containing protein (vcp) mutation is described in three families.
PubMedID- 21222596 Inclusion body myopathy (ibm) associated with paget's disease of the bone (pdb) and fronto-temporal dementia (ftd) or ibmpfd, is a rare multisystem degenerative disorder due to mutations in valosin containing protein (vcp).
PubMedID- 21103003 P97 has human disease relevance as it is mutated in familial cases of inclusion body myopathy associated with paget's disease of the bone and frontotemporal dementia (ibmpfd).
PubMedID- 25149037 Mutations of the valosin containing protein are instead responsible for hereditary inclusion-body myopathy with paget's disease of the bone and frontotemporal dementia (ibmpfd), with these three phenotypic features having a variable penetrance.
PubMedID- 25125609 Mutations in vcp have been reported to account for a spectrum of phenotypes that include inclusion body myopathy with paget's disease of the bone and frontotemporal dementia, hereditary spastic paraplegia, and 1-2% of familial amyotrophic lateral sclerosis.
PubMedID- 24707269 Unusual clinical presentation and the age of this patient could raise the possibility of inclusion body myopathy with paget's disease of the bone and frontotemporal dementia (ibmpfd) caused by mutations in the vasolin-containing protein (vcp) gene.
PubMedID- 25545721 Inclusion body myopathy associated with paget's disease of the bone and frontotemporal dementia is attributed to mutations in the valosin-containing protein (vcp) gene, mapped to chromosomal region 9p13.3-12.
PubMedID- 22420316 Vcp mutations were known to cause a rare autosomal dominant disorder with inclusion body myopathy (ibm) associated with paget's disease of the bone (pdb) and ftld, denoted as ibmpfd (105).

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