| Title |
A Brazilian family with inclusion body myopathy associated with Paget’s disease of bone and frontotemporal dementia linked to the VCP pGly97Glu mutation
|
|---|---|
| Published in |
Clinical Rheumatology, November 2017
|
| DOI | 10.1007/s10067-017-3913-1 |
| Pubmed ID | |
| Authors |
Samuel Katsuyuki Shinjo, Sueli Mieko Oba-Shinjo, Antonio Marcondes Lerario, Suely Kazue Nagahashi Marie |
| Abstract |
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 inclusion body myopathy. However, after admission to our service, and considering his personal and familial antecedents, whole exome sequencing was performed revealing valosin-containing protein (VCP) c.290G>A (p.Gly97Glu) mutation in the patient and his nine family members. The clinical presentation of the patient and his family was characterized by different degrees and evaluations of IBMPFD. According to the literature, only one family (Chinese) has this same VCP mutation concomitantly with different IBMPFD phenotype manifestations. The present study shows that IBMPFD should be considered as a differential diagnosis in patients with inflammatory myopathies associated to bone disease and/or cognitive impairment. Moreover, the study expands the genotypic spectrum of missense mutations of VCP gene in a Brazilian family with variable phenotypes. |
X Demographics
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Geographical breakdown
| Country | Count | As % |
|---|---|---|
| United States | 1 | 100% |
Demographic breakdown
| Type | Count | As % |
|---|---|---|
| Members of the public | 1 | 100% |
Mendeley readers
The data shown below were compiled from readership statistics for 37 Mendeley readers of this research output. Click here to see the associated Mendeley record.
Geographical breakdown
| Country | Count | As % |
|---|---|---|
| Unknown | 37 | 100% |
Demographic breakdown
| Readers by professional status | Count | As % |
|---|---|---|
| Researcher | 5 | 14% |
| Student > Doctoral Student | 4 | 11% |
| Student > Bachelor | 4 | 11% |
| Student > Ph. D. Student | 3 | 8% |
| Student > Master | 2 | 5% |
| Other | 2 | 5% |
| Unknown | 17 | 46% |
| Readers by discipline | Count | As % |
|---|---|---|
| Medicine and Dentistry | 7 | 19% |
| Nursing and Health Professions | 4 | 11% |
| Biochemistry, Genetics and Molecular Biology | 3 | 8% |
| Veterinary Science and Veterinary Medicine | 1 | 3% |
| Psychology | 1 | 3% |
| Other | 3 | 8% |
| Unknown | 18 | 49% |
Attention Score in Context
This research output has an Altmetric Attention Score of 1. This is our high-level measure of the quality and quantity of online attention that it has received. This Attention Score, as well as the ranking and number of research outputs shown below, was calculated when the research output was last mentioned on 12 November 2017.
All research outputs
#20,451,991
of 23,007,887 outputs
Outputs from Clinical Rheumatology
#2,664
of 3,042 outputs
Outputs of similar age
#286,068
of 328,166 outputs
Outputs of similar age from Clinical Rheumatology
#40
of 55 outputs
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