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X Demographics
Mendeley readers
Attention Score in Context
| Title |
Molecular basis of infantile reversible cytochrome c oxidase deficiency myopathy
|
|---|---|
| Published in |
Brain, August 2009
|
| DOI | 10.1093/brain/awp221 |
| Pubmed ID | |
| Authors |
Rita Horvath, John P. Kemp, Helen A. L. Tuppen, Gavin Hudson, Anders Oldfors, Suely K. N. Marie, Ali-Reza Moslemi, Serenella Servidei, Elisabeth Holme, Sara Shanske, Gittan Kollberg, Parul Jayakar, Angela Pyle, Harold M. Marks, Elke Holinski-Feder, Mena Scavina, Maggie C. Walter, Jorida Çoku, Andrea Günther-Scholz, Paul M. Smith, Robert McFarland, Zofia M. A. Chrzanowska-Lightowlers, Robert N. Lightowlers, Michio Hirano, Hanns Lochmüller, Robert W. Taylor, Patrick F. Chinnery, Mar Tulinius, Salvatore DiMauro |
| Abstract |
Childhood-onset mitochondrial encephalomyopathies are usually severe, relentlessly progressive conditions that have a fatal outcome. However, a puzzling infantile disorder, long known as 'benign cytochrome c oxidase deficiency myopathy' is an exception because it shows spontaneous recovery if infants survive the first months of life. Current investigations cannot distinguish those with a good prognosis from those with terminal disease, making it very difficult to decide when to continue intensive supportive care. Here we define the principal molecular basis of the disorder by identifying a maternally inherited, homoplasmic m.14674T>C mt-tRNA(Glu) mutation in 17 patients from 12 families. Our results provide functional evidence for the pathogenicity of the mutation and show that tissue-specific mechanisms downstream of tRNA(Glu) may explain the spontaneous recovery. This study provides the rationale for a simple genetic test to identify infants with mitochondrial myopathy and good prognosis. |
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 % |
|---|---|---|
| Brazil | 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 68 Mendeley readers of this research output. Click here to see the associated Mendeley record.
Geographical breakdown
| Country | Count | As % |
|---|---|---|
| Unknown | 68 | 100% |
Demographic breakdown
| Readers by professional status | Count | As % |
|---|---|---|
| Student > Ph. D. Student | 12 | 18% |
| Researcher | 10 | 15% |
| Student > Master | 10 | 15% |
| Professor > Associate Professor | 7 | 10% |
| Professor | 6 | 9% |
| Other | 16 | 24% |
| Unknown | 7 | 10% |
| Readers by discipline | Count | As % |
|---|---|---|
| Medicine and Dentistry | 20 | 29% |
| Biochemistry, Genetics and Molecular Biology | 15 | 22% |
| Agricultural and Biological Sciences | 9 | 13% |
| Neuroscience | 4 | 6% |
| Arts and Humanities | 2 | 3% |
| Other | 5 | 7% |
| Unknown | 13 | 19% |
Attention Score in Context
This research output has an Altmetric Attention Score of 2. 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 28 December 2013.
All research outputs
#13,352,626
of 22,649,029 outputs
Outputs from Brain
#5,685
of 7,072 outputs
Outputs of similar age
#73,471
of 91,111 outputs
Outputs of similar age from Brain
#28
of 37 outputs
Altmetric has tracked 22,649,029 research outputs across all sources so far. This one is in the 39th percentile – i.e., 39% of other outputs scored the same or lower than it.
So far Altmetric has tracked 7,072 research outputs from this source. They typically receive a lot more attention than average, with a mean Attention Score of 25.2. This one is in the 18th percentile – i.e., 18% of its peers scored the same or lower than it.
Older research outputs will score higher simply because they've had more time to accumulate mentions. To account for age we can compare this Altmetric Attention Score to the 91,111 tracked outputs that were published within six weeks on either side of this one in any source. This one is in the 18th percentile – i.e., 18% of its contemporaries scored the same or lower than it.
We're also able to compare this research output to 37 others from the same source and published within six weeks on either side of this one. This one is in the 21st percentile – i.e., 21% of its contemporaries scored the same or lower than it.