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bn:04726731n
Noun Concept
EN
inclusion body myopathy with Paget disease of bone and frontotemporal dementia  IBMPFD  inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia  inclusion body myopathy with Paget's disease of bone and frontotemporal dementia  Limb-girdle muscular dystrophy with Paget disease of bone
EN
Syndrome that is characterized by progressive proximal muscle weakness, steolytic bone lesions consistent with Paget disease, and frontotemporal dementia and has physical basis in mutation in the valosin containing protein (VCP) Wikidata
Definitions
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Sources
EN
Syndrome that is characterized by progressive proximal muscle weakness, steolytic bone lesions consistent with Paget disease, and frontotemporal dementia and has physical basis in mutation in the valosin containing protein (VCP) Wikidata
IS A
rare disease
syndrome
hereditary inclusion body myopathy
frontotemporal dementia
GENETIC ASSOCIATION
hnRNPA1
HNRPA2B1
Valosin-containing protein
HEALTH SPECIALTY
neurology
Wikidata
EN
inclusion body myopathy with Paget disease of bone and frontotemporal dementia
Wikidata Alias
EN
IBMPFD, inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia, inclusion body myopathy with Paget's disease of bone and frontotemporal dementia, Limb-girdle muscular dystrophy with Paget disease of bone, Pagetoid amyotrophic lateral sclerosis, Pagetoid neuroskeletal syndrome

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