| Title |
Emery–Dreifuss muscular dystrophy: a test case for precision medicine
|
|---|---|
| Published in |
The Application of Clinical Genetics, February 2016
|
| DOI | 10.2147/tacg.s75028 |
| Pubmed ID | |
| Authors |
De-Ann M Pillers, Nicholas H Von Bergen |
| Abstract |
Emery-Dreifuss muscular dystrophy (EDMD) is characterized by the clinical triad of scapulohumeroperoneal muscle weakness, joint contractures, and cardiac defects that include arrhythmias and dilated cardiomyopathy. Although there is a defining group of clinical findings, the proteins responsible and their underlying gene defects leading to EDMD are varied. A common aspect of the gene defects is their involvement in, or with, the nuclear envelope. Treatment approaches are largely based on clinical symptoms. The genetic diversity of EDMD predicts that a cure will ultimately depend upon the individual's defect at the gene level, making this an ideal candidate for a precision medicine approach. |
Mendeley readers
The data shown below were compiled from readership statistics for 47 Mendeley readers of this research output. Click here to see the associated Mendeley record.
Geographical breakdown
| Country | Count | As % |
|---|---|---|
| Unknown | 47 | 100% |
Demographic breakdown
| Readers by professional status | Count | As % |
|---|---|---|
| Student > Ph. D. Student | 9 | 19% |
| Student > Master | 7 | 15% |
| Student > Bachelor | 5 | 11% |
| Researcher | 4 | 9% |
| Professor | 4 | 9% |
| Other | 6 | 13% |
| Unknown | 12 | 26% |
| Readers by discipline | Count | As % |
|---|---|---|
| Medicine and Dentistry | 12 | 26% |
| Biochemistry, Genetics and Molecular Biology | 11 | 23% |
| Agricultural and Biological Sciences | 4 | 9% |
| Computer Science | 3 | 6% |
| Pharmacology, Toxicology and Pharmaceutical Science | 2 | 4% |
| Other | 0 | 0% |
| Unknown | 15 | 32% |
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 26 February 2016.
All research outputs
#23,100,963
of 25,748,735 outputs
Outputs from The Application of Clinical Genetics
#1
of 1 outputs
Outputs of similar age
#350,205
of 408,562 outputs
Outputs of similar age from The Application of Clinical Genetics
#1
of 1 outputs
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