| Title |
New mitochondrial DNA mutations in tRNA associated with three severe encephalopamyopathic phenotypes: neonatal, infantile, and childhood onset
|
|---|---|
| Published in |
neurogenetics, May 2012
|
| DOI | 10.1007/s10048-012-0322-0 |
| Pubmed ID | |
| Authors |
María del Mar O’Callaghan, Sonia Emperador, Ester López-Gallardo, Cristina Jou, Nuria Buján, Raquel Montero, Àngels Garcia-Cazorla, Diana Gonzaga, Isidre Ferrer, Paz Briones, Eduardo Ruiz-Pesini, Mercè Pineda, Rafael Artuch, Julio Montoya |
| Abstract |
The reported cases showed clinical, biochemical, histopathological, and molecular features lending support to the hypothesis of a pathogenic effect of the detected mutations. Case 1 was a neonatal presentation who showed multiple mitochondrial respiratory chain enzyme defects in muscle associated with a new homoplasmic m.5514A > G transition in the tRNA(Trp) gene. Case 2 was a late infantile presentation who also showed mitochondrial respiratory chain enzyme deficiencies in muscle together with a new m.1643A > G tRNA(Val) mutation in homoplasmy. Case 3 showed a MERRF phenotype presented in childhood associated with the once previously reported m.15923A > G mutation in heteroplasmy in all the tissues studied. |
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 % |
|---|---|---|
| Unknown | 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 29 Mendeley readers of this research output. Click here to see the associated Mendeley record.
Geographical breakdown
| Country | Count | As % |
|---|---|---|
| Unknown | 29 | 100% |
Demographic breakdown
| Readers by professional status | Count | As % |
|---|---|---|
| Student > Ph. D. Student | 6 | 21% |
| Researcher | 4 | 14% |
| Student > Doctoral Student | 3 | 10% |
| Student > Bachelor | 3 | 10% |
| Professor > Associate Professor | 2 | 7% |
| Other | 5 | 17% |
| Unknown | 6 | 21% |
| Readers by discipline | Count | As % |
|---|---|---|
| Biochemistry, Genetics and Molecular Biology | 5 | 17% |
| Medicine and Dentistry | 5 | 17% |
| Agricultural and Biological Sciences | 4 | 14% |
| Neuroscience | 2 | 7% |
| Psychology | 2 | 7% |
| Other | 3 | 10% |
| Unknown | 8 | 28% |
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 30 May 2012.
All research outputs
#18,306,425
of 22,665,794 outputs
Outputs from neurogenetics
#298
of 375 outputs
Outputs of similar age
#126,815
of 164,803 outputs
Outputs of similar age from neurogenetics
#4
of 6 outputs
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