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eRAM

encyclopedia of Rare Disease Annotation for Precision Medicine




Disease myopathy
Comorbidity C0029401|paget disease
Sentences 33
PubMedID- 25388089 Dominant mutations in the valosin-containing protein (vcp) gene cause inclusion body myopathy associated with paget disease of bone and frontotemporal dementia, which is characterized by progressive muscle weakness, dysfunction in bone remodeling, and frontotemporal dementia.
PubMedID- 22270372 Here we have tested ten major inclusion body myopathy associated with paget disease of bone and frontotemporal dementia-linked mutants for atpase activity and found that all have increased activity over the wild type, with one mutant, p97(a232e), having three times higher activity.
PubMedID- 20604808 Enhanced atpase activities as a primary defect of mutant valosin-containing proteins that cause inclusion body myopathy associated with paget disease of bone and frontotemporal dementia.
PubMedID- 23169451 Introduction: mutations in the valosin-containing protein (vcp) gene cause hereditary inclusion body myopathy (ibm) associated with paget disease of bone (pdb), and frontotemporal dementia (ftd).
PubMedID- 23747512 Mutations in valosin-containing protein (vcp) cause a rare, autosomal dominant disease called inclusion body myopathy associated with paget disease of bone and frontotemporal dementia (ibmpfd).
PubMedID- 25698929 However, p97 dysfunction was recently linked to some forms of amyotrophic lateral sclerosis and hereditary inclusion body myopathy associated with paget disease of bone and frontotemporal dementia (ibmpfd) and a connection to failed mitochondrial quality control was suspected (yamanaka et al., 2012).
PubMedID- 22909335 Genotype-phenotype studies of vcp-associated inclusion body myopathy with paget disease of bone and/or frontotemporal dementia.
PubMedID- 21320982 Inclusion body myopathy with paget disease of bone and frontotemporal dementia linked to vcp p.arg155cys in a korean family.
PubMedID- 21781992 P97 was identified as a causative factor for inclusion body myopathy associated with paget disease of bone and frontotemporal dementia (ibmpfd) and more recently as a causative factor for amyotrophic lateral sclerosis (als).
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- 25884947 Mutations in the valosin containing protein (vcp) gene cause hereditary inclusion body myopathy (hibm) associated with paget disease of bone (pdb), frontotemporal dementia (ftd), more recently termed multisystem proteinopathy (msp).
PubMedID- 21941597 Most recently, mutations in the gene encoding valosin-containing protein (vcp), previously identified as causative for both frontotemporal dementia [35] and the rare syndrome ibmpfd (inclusion body myopathy with early-onset paget disease of the bone and frontotemporal dementia) [36], were described in a cohort of als patients using exome sequencing [37].
PubMedID- 20301649 Inclusion body myopathy associated with paget disease of bone (pdb) and/or frontotemporal dementia (ibmpfd) is characterized by adult-onset proximal and distal muscle weakness (clinically resembling a limb-girdle muscular dystrophy syndrome), early-onset pdb, and premature frontotemporal dementia (ftd).
PubMedID- 22728077 To date, 19 different single amino acid-substitutions in vcp have been reported to cause ibmpfd (inclusion body myopathy associated with paget disease of bone and frontotemporal dementia), an autosomal dominant inherited human disease.
PubMedID- 24612671 Inclusion body myopathy (ibm) associated with paget disease of the bone, frontotemporal dementia (ftd), and amyotrophic lateral sclerosis (als), sometimes called ibmpfd/als or multi system proteinopathy, is a rare, autosomal dominant disorder characterized by progressive degeneration of muscle, brain, motor neurons, and bone with prominent tdp-43 pathology.
PubMedID- 23333620 Inclusion body myopathy associated with paget disease of the bone and frontotemporal dementia (ibmpfd) is an autosomal dominant disorder which has been attributed to mutations in p97/vcp.
PubMedID- 21412659 Inclusion body myopathy associated with paget disease and frontotemporal dementia (ibmpfd) is a progressive and usually misdiagnosed autosomal dominant disorder.
PubMedID- 25457024 Accumulating evidence has proven that mutations in the vcp gene encoding valosin-containing protein (vcp) cause inclusion body myopathy with paget disease of the bone and frontotemporal dementia.
PubMedID- 20833645 Mutations of the human valosin-containing protein gene cause autosomal-dominant inclusion body myopathy associated with paget disease of bone and frontotemporal dementia.
PubMedID- 25255315 Mutations in vcp (valosin-containing protein), an aaa atpase critical for er-associated degradation, are linked to ibmpfd (inclusion body myopathy with paget disease and frontotemporal dementia).
PubMedID- 23439279 Pathological phenotypes in inclusion body myopathy (ibm) associated with paget disease of the bone (pdb), frontotemporal dementia (ftd) and amyotrophic lateral sclerosis (als) (ibmpfd/als) include defective autophagosome and endosome maturation that result in vacuolation, weakness and muscle atrophy.
PubMedID- 22105166 Inclusion body myopathy with paget disease of the bone and frontotemporal dementia (ibmpfd) is a multisystem degenerative disorder caused by mutations in the valosin-containing protein (vcp) gene.
PubMedID- 23868359 Inclusion body myopathy with paget disease of the bone and frontotemporal dementia associated with a novel g156s mutation in the vcp gene.
PubMedID- 22210628 Immunoprecipitation assays revealed an abnormal interaction between atp7a(t994i) and p97/vcp, an ubiquitin-selective chaperone which is mutated in two autosomal dominant forms of motor neuron disease: amyotrophic lateral sclerosis and inclusion body myopathy with early-onset paget disease and fronto-temporal dementia.
PubMedID- 22870330 Some autosomal dominant mutations in the vcp gene cause inclusion body myopathy with paget disease of the bone and frontotemporal dementia (ibmpfd) which is a rare, late age–onset inherited degenerative disorder that can affect the muscles, bones and brain [13].
PubMedID- 24838343 Its dominant mutations cause hereditary inclusion body myopathy associated with paget disease of bone and frontotemporal dementia (ibmpfd) or amyotrophic lateral sclerosis.
PubMedID- 22105171 Inclusion body myopathy with paget disease of bone and frontotemporal dementia (ibmpfd) is an autosomal dominant disorder characterized by progressive myopathy that is often accompanied by bone weakening and/or frontotemporal dementia.
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- 21684747 Inclusion body myopathy with paget disease and frontotemporal dementia (ibmpfd) is caused by mutations in the valosin-containing protein (vcp) gene.
PubMedID- 21503141 Of these abcd1 (adrenoleukodytrophy), abcd3 (zellweger syndrome), dld (leigh syndrome and maple syrup urine disease, msud), fh (fumarase deficiency), hspd1 (spastic paraplegia 13 and hypomyelinating leukodystrophy), tufm (combined oxidative phosphorylation deficiency 4), and vcp (inclusion body myopathy with early onset paget disease and frontotemporal dementia) are associated with disease of the cns.
PubMedID- 25031631 Vcp mutations also cause the syndrome of inclusion body myopathy with paget disease of bone and ftd [108].
PubMedID- 23827524 Mutations in the prion-like domain (prld) of hnrnpa1 and a2/b1 genes were recently identified in 2 families with inclusion body myopathy associated with paget disease of bone, frontotemporal dementia (ftd), and amyotrophic lateral sclerosis, and in als patients.
PubMedID- 23715207 Inclusion body myopathy with paget disease of bone and frontotemporal dementia is a progressive autosomal dominant disorder associated with a mutation in valosin-containing protein (vcp) with typical onset of symptoms in the 30s.

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