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Article

A Brazilian family with inclusion body myopathy associated with Paget's disease of bone and frontotemporal dementia linked to the VCP pGly97Glu mutation.

Clinical rheumatology - 1 Apr 2018

Shinjo Samuel Katsuyuki, Oba-Shinjo Sueli Mieko, Lerario Antonio Marcondes, Marie Suely Kazue Nagahashi

Abstract excerpt

The objective of this study is to report a Brazilian patient and his family with inclusion body myopathy associated with Paget's disease of bone and frontotemporal dementia (IBMPFD). A systematic review of the literature on the valosin-containing protein (VCP) mutation was also performed. The proband (patient) was initially treated as a case of possible refractory polymyositis with Paget's disease and later as an...

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Source

Identifiers

PMID: 29127544
DOI: 10.1007/s10067-017-3913-1

Genes

VCP

Variants

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A Brazilian family with inclusion body myopathy associated with Paget's disease of bone and frontotemporal dementia linked to the VCP pGly97Glu mutation.PMID 29127544Read ↗

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Inclusion Body Myopathy With Paget Disease of Bone and Frontotemporal Dementia Linked to VCP p.Arg155Cys in a Korean FamilySemantic proximity Read ↗

VCP disease associated with myopathy, Paget disease of bone and frontotemporal dementia: review of a unique disorder.Semantic proximity Read ↗

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[Inclusion body myopathy with Paget's disease of bone and frontotemporal dementia].Semantic proximity Read ↗

Novel VCP mutations in inclusion body myopathy associated with Paget disease of bone and frontotemporal dementia.Semantic proximity Read ↗

VCP-related myopathy: a case series and a review of literature.Semantic proximity Read ↗

[Inclusion Body Myopathy, Paget's Disease, and Fronto-temporal Dementia: a VCP-related Multi-systemic Proteinopathy].Semantic proximity Read ↗

One family, one gene and three phenotypes: A novel VCP (valosin-containing protein) mutation associated with myopathy with rimmed vacuoles, amyotrophic lateral sclerosis and frontotemporal dementia.Semantic proximity Read ↗

Inclusion body myopathy and Paget disease is linked to a novel mutation in the VCP gene.Semantic proximity Read ↗

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