| Title |
A DYNC1H1 mutation causes a dominant spinal muscular atrophy with lower extremity predominance
|
|---|---|
| Published in |
neurogenetics, July 2012
|
| DOI | 10.1007/s10048-012-0337-6 |
| Pubmed ID | |
| Authors |
Yoshinori Tsurusaki, Shinji Saitoh, Kazuhiro Tomizawa, Akira Sudo, Naoko Asahina, Hideaki Shiraishi, Jun-ichi Ito, Hajime Tanaka, Hiroshi Doi, Hirotomo Saitsu, Noriko Miyake, Naomichi Matsumoto |
| Abstract |
Whole-exome sequencing of two affected sibs and their mother who showed a unique quadriceps-dominant form of neurogenic muscular atrophy disclosed a heterozygous DYNC1H1 mutation [p.H306R (c.917A>G)]. The identical mutation was recently reported in a pedigree with the axonal form of Charcot-Marie-Tooth disease. Three other missense mutations in DYNC1H1 were also identified in families with dominant spinal muscular atrophy with lower extremity predominance. Their clinical features were consistent with those of our family. Our study has demonstrated that the same DYNC1H1 mutation could cause spinal muscular atrophy as well as distal neuropathy, indicating pleotropic effects of the mutation. |
Mendeley readers
The data shown below were compiled from readership statistics for 65 Mendeley readers of this research output. Click here to see the associated Mendeley record.
Geographical breakdown
| Country | Count | As % |
|---|---|---|
| Unknown | 65 | 100% |
Demographic breakdown
| Readers by professional status | Count | As % |
|---|---|---|
| Student > Ph. D. Student | 20 | 31% |
| Student > Bachelor | 8 | 12% |
| Researcher | 8 | 12% |
| Student > Postgraduate | 5 | 8% |
| Student > Master | 4 | 6% |
| Other | 9 | 14% |
| Unknown | 11 | 17% |
| Readers by discipline | Count | As % |
|---|---|---|
| Agricultural and Biological Sciences | 21 | 32% |
| Biochemistry, Genetics and Molecular Biology | 9 | 14% |
| Medicine and Dentistry | 9 | 14% |
| Neuroscience | 7 | 11% |
| Immunology and Microbiology | 1 | 2% |
| Other | 3 | 5% |
| Unknown | 15 | 23% |
Attention Score in Context
This research output has an Altmetric Attention Score of 3. 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 02 August 2012.
All research outputs
#7,454,951
of 22,790,780 outputs
Outputs from neurogenetics
#116
of 376 outputs
Outputs of similar age
#54,589
of 164,196 outputs
Outputs of similar age from neurogenetics
#1
of 2 outputs
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