Title |
Sporadic inclusion body myositis: the genetic contributions to the pathogenesis
|
---|---|
Published in |
Orphanet Journal of Rare Diseases, June 2014
|
DOI | 10.1186/1750-1172-9-88 |
Pubmed ID | |
Authors |
Qiang Gang, Conceição Bettencourt, Pedro Machado, Michael G Hanna, Henry Houlden |
Abstract |
Sporadic inclusion body myositis (sIBM) is the commonest idiopathic inflammatory muscle disease in people over 50 years old. It is characterized by slowly progressive muscle weakness and atrophy, with typical pathological changes of inflammation, degeneration and mitochondrial abnormality in affected muscle fibres. The cause(s) of sIBM are still unknown, but are considered complex, with the contribution of multiple factors such as environmental triggers, ageing and genetic susceptibility. This review summarizes the current understanding of the genetic contributions to sIBM and provides some insights for future research in this mysterious disease with the advantage of the rapid development of advanced genetic technology. An international sIBM genetic study is ongoing and whole-exome sequencing will be applied in a large cohort of sIBM patients with the aim of unravelling important genetic risk factors for sIBM. |
X Demographics
Geographical breakdown
Country | Count | As % |
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United States | 1 | 50% |
United Kingdom | 1 | 50% |
Demographic breakdown
Type | Count | As % |
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Members of the public | 1 | 50% |
Scientists | 1 | 50% |
Mendeley readers
Geographical breakdown
Country | Count | As % |
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United Kingdom | 1 | 2% |
United States | 1 | 2% |
Unknown | 52 | 96% |
Demographic breakdown
Readers by professional status | Count | As % |
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Researcher | 13 | 24% |
Student > Ph. D. Student | 9 | 17% |
Student > Master | 7 | 13% |
Student > Doctoral Student | 4 | 7% |
Other | 3 | 6% |
Other | 6 | 11% |
Unknown | 12 | 22% |
Readers by discipline | Count | As % |
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Agricultural and Biological Sciences | 13 | 24% |
Medicine and Dentistry | 10 | 19% |
Biochemistry, Genetics and Molecular Biology | 5 | 9% |
Neuroscience | 5 | 9% |
Nursing and Health Professions | 2 | 4% |
Other | 6 | 11% |
Unknown | 13 | 24% |