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PedAM

Pediatric Disease Annotations & Medicines




Disease myopathy
Phenotype C0029401|paget\'s disease
Sentences 49
PubMedID- 23440936 Less common genetic etiologies of ftld include: valosin-containing protein (vcp) resulting in inclusion body myopathy with paget's disease of bone and frontotemporal dementia with ftld-tdp subtype d neuropathology, tardbp coding for tdp-43 protein and causing als or als-ftld (rarely ftld-tdp alone), chmp2b coding for charged mutlivesciular body protein 2b and resulting in ftld-ups, and mutations in fus causing ftld-fus (figure 1b) (mackenzie et al., 2010).
PubMedID- 24291843 Inclusion body myopathy with paget's disease of bone and frontotemporal dementia (ibmpfd) is an autosomal dominant disease caused by mutations in the vcp gene.
PubMedID- 24130765 Mutations in the valosin containing protein (vcp) gene lead to inclusion body myopathy associated with paget's disease of bone and frontotemporal dementia (ibmpfd) and more recently affect 2% of amyotrophic lateral sclerosis (als)-diagnosed cases.
PubMedID- 22078486 Vcp mutations are known to cause inclusion body myopathy (ibm) with paget's disease (pdb) and frontotemporal dementia (ftd).
PubMedID- 21892620 Inclusion body myopathy associated with paget's disease of bone and frontotemporal dementia (ibmpfd) is a progressive, fatal genetic disorder with variable penetrance, predominantly affecting three main tissue types: muscle (ibm), bone (pdb), and brain (ftd).
PubMedID- 23782134 Mutations in vcp are known to cause inclusion body myopathy with paget's disease and frontotemporal dementia and familial amyotrophic lateral sclerosis (fals; als14), both of which are characterized by trans-activation response dna protein 43 (tdp-43)-positive neuronal cytoplasmic and nuclear inclusions.
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).
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- 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- 25852467 Ibmpfd, inclusion body myopathy with paget's disease of the bone and frontotemporal dementia.
PubMedID- 20147319 Inclusion body myopathy associated with paget's disease of bone and frontotemporal dementia (ibmpfd) is a dominantly inherited degenerative disorder caused by mutations in the valosin-containing protein (vcp) gene.
PubMedID- 20519548 Inclusion body myopathy associated with paget's disease of bone and frontotemporal dementia (ibmpfd) is a dominantly inherited degenerative disorder caused by mutations in the valosin-containing protein (vcp7) gene.
PubMedID- 25447673 A genetic deficiency of vcp can cause inclusion body myopathy associated with paget's disease of bone and frontotemporal dementia (ibmpfd).
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- 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- 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- 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- 21304887 Inclusion body myopathy with paget's disease of bone and frontotemporal dementia (ibmpfd) is caused by mutations in valosin-containing protein (vcp), a hexameric aaa atpase that participates in a variety of cellular processes such as protein degradation, organelle biogenesis, and cell-cycle regulation.
PubMedID- 25716352 Inclusion body myopathy associated with paget's disease of bone and fronto-temporal dementia, also known as multisystem proteinopathy is an autosomal dominant, late onset neurodegenerative disorder caused by mutations in valosin containing protein (vcp) gene.
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- 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- 20130684 Cdc48p/p97 is a highly conserved essential aaa protein that is required for many cellular processes, and is identified as a causative gene for an autosomal dominant human disorder, inclusion body myopathy associated with paget's disease of the bone and frontotemporal dementia (ibmpfd).
PubMedID- 22449146 Both neurofibromatosis type i (nf1) and inclusion body myopathy with paget's disease of bone and frontotemporal dementia (ibmpfd) are autosomal dominant genetic disorders.
PubMedID- 23000505 Introduction: inclusion-body myopathy (ibm) with paget's disease of bone (pdb) and frontotemporal dementia (ftd), designated as ibmpfd, is a rare, autosomal dominant disorder (mim 605382).
PubMedID- 22686199 Inclusion body myopathy associated with paget's disease of bone and frontotemporal dementia (ibmpfd) is an autosomal dominant disorder caused by mutations in the valosin-containing protein (vcp) gene on chromosome 9p12-13.
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- 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- 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- 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- 22481368 Ibmpfd, inclusion body myopathy associated with paget's disease of bone and frontotemporal dementia, is a hereditary degenerative disorder due to single missense mutations in vcp (valosin-containing protein).
PubMedID- 22174917 The differential binding of ufd2a and ufd2a-7/7a to vcp/p97 is also of interest given that mutations in this aaa-type atpase are present in patients with inclusion body myopathy associated with paget's disease of bone and frontotemporal dementia and cause complete disease pathology in transgenic mice [60], [61].
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- 22518139 Mutations in p97/vcp cause inclusion body myopathy associated with paget's disease of the bone and frontotemporal dementia (ibmpfd) [107].
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- 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- 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- 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- 23782824 Inclusion body myopathy with paget's disease of bone and frontotemporal dementia (ibmpfd) is caused by mutations in the valosin-containing protein (vcp) gene.
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- 21249466 Mutations in the vcp gene including r93, r155, and r191 have been described that manifest clinically as hereditary inclusion body myopathy with paget's disease of bone and frontotemporal dementia.
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- 23056506 Heterozygous mutations in the human vcp (p97) gene cause autosomal-dominant ibmpfd (inclusion body myopathy with early onset paget's disease of bone and frontotemporal dementia), als14 (amyotrophic lateral sclerosis with or without frontotemporal dementia) and hsp (hereditary spastic paraplegia).
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- 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- 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- 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- 20116073 The family presented here suggests that a yet-unknown genetic defect can give rise to an autosomal dominant myopathy with paget's disease but without dementia.
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- 22040362 Background and purpose: mutations in the valosin-containing protein (vcp) gene are known to cause inclusion body myopathy with paget's disease of bone and frontotemporal dementia (ibmpfd) and familial amyotrophic lateral sclerosis (als).

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