| Title |
Exome sequencing of a patient with suspected mitochondrial disease reveals a likely multigenic etiology
|
|---|---|
| Published in |
BMC Medical Genomics, August 2013
|
| DOI | 10.1186/1471-2350-14-83 |
| Pubmed ID | |
| Authors |
William J Craigen, Brett H Graham, Lee-Jun Wong, Fernando Scaglia, Richard Alan Lewis, Penelope E Bonnen |
| Abstract |
The clinical features of mitochondrial disease are complex and highly variable, leading to challenges in establishing a specific diagnosis. Despite being one of the most commonly occurring inherited genetic diseases with an incidence of 1/5000, ~90% of these complex patients remain without a DNA-based diagnosis. We report our efforts to identify the pathogenetic cause for a patient with typical features of mitochondrial disease including infantile cataracts, CPEO, ptosis, progressive distal muscle weakness, and ataxia who carried a diagnosis of mitochondrial disease for over a decade. |
X Demographics
The data shown below were collected from the profile of 1 X user who shared this research output. Click here to find out more about how the information was compiled.
Geographical breakdown
| Country | Count | As % |
|---|---|---|
| United Kingdom | 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 39 Mendeley readers of this research output. Click here to see the associated Mendeley record.
Geographical breakdown
| Country | Count | As % |
|---|---|---|
| Spain | 1 | 3% |
| United States | 1 | 3% |
| Unknown | 37 | 95% |
Demographic breakdown
| Readers by professional status | Count | As % |
|---|---|---|
| Researcher | 7 | 18% |
| Other | 5 | 13% |
| Student > Postgraduate | 4 | 10% |
| Professor > Associate Professor | 3 | 8% |
| Student > Master | 3 | 8% |
| Other | 8 | 21% |
| Unknown | 9 | 23% |
| Readers by discipline | Count | As % |
|---|---|---|
| Agricultural and Biological Sciences | 11 | 28% |
| Medicine and Dentistry | 10 | 26% |
| Biochemistry, Genetics and Molecular Biology | 4 | 10% |
| Arts and Humanities | 2 | 5% |
| Unknown | 12 | 31% |
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 19 August 2013.
All research outputs
#22,759,802
of 25,374,917 outputs
Outputs from BMC Medical Genomics
#2,010
of 2,444 outputs
Outputs of similar age
#172,971
of 194,421 outputs
Outputs of similar age from BMC Medical Genomics
#24
of 27 outputs
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