| Title |
A newly distal hereditary motor neuropathy caused by a rare AIFM1 mutation
|
|---|---|
| Published in |
neurogenetics, October 2017
|
| DOI | 10.1007/s10048-017-0524-6 |
| Pubmed ID | |
| Authors |
Paula Sancho, Ana Sánchez-Monteagudo, Antonio Collado, Clara Marco-Marín, Cristina Domínguez-González, Ana Camacho, Erwin Knecht, Carmen Espinós, Vincenzo Lupo |
| Abstract |
In two siblings, who suffer from an early childhood-onset axonal polyneuropathy with exclusive involvement of motor fibers, the c.629T>C (p.F210S) mutation was identified in the X-linked AIFM1 gene, which encodes for the apoptosis-inducing factor (AIF). The mutation was predicted as deleterious, according to in silico analysis. A decreased expression of the AIF protein, altered cellular morphology, and a fragmented mitochondrial network were observed in the proband's fibroblasts. This new form of motor neuropathy expands the phenotypic spectrum of AIFM1 mutations and therefore, the AIFM1 gene should be considered in the diagnosis of hereditary motor neuropathies. |
Mendeley readers
The data shown below were compiled from readership statistics for 33 Mendeley readers of this research output. Click here to see the associated Mendeley record.
Geographical breakdown
| Country | Count | As % |
|---|---|---|
| Unknown | 33 | 100% |
Demographic breakdown
| Readers by professional status | Count | As % |
|---|---|---|
| Researcher | 7 | 21% |
| Student > Ph. D. Student | 7 | 21% |
| Student > Bachelor | 4 | 12% |
| Other | 2 | 6% |
| Student > Postgraduate | 2 | 6% |
| Other | 1 | 3% |
| Unknown | 10 | 30% |
| Readers by discipline | Count | As % |
|---|---|---|
| Biochemistry, Genetics and Molecular Biology | 13 | 39% |
| Agricultural and Biological Sciences | 4 | 12% |
| Neuroscience | 2 | 6% |
| Medicine and Dentistry | 2 | 6% |
| Unknown | 12 | 36% |
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 October 2017.
All research outputs
#20,451,228
of 23,007,053 outputs
Outputs from neurogenetics
#345
of 380 outputs
Outputs of similar age
#281,821
of 323,062 outputs
Outputs of similar age from neurogenetics
#8
of 8 outputs
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