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Mendeley readers
Attention Score in Context
| Title |
Novel frame-shift mutation in PKP2 associated with arrhythmogenic right ventricular cardiomyopathy: a case report
|
|---|---|
| Published in |
BMC Medical Genomics, December 2015
|
| DOI | 10.1186/s12881-015-0263-1 |
| Pubmed ID | |
| Authors |
Teresa Trenkwalder, Isabel Deisenhofer, Martin Hadamitzky, Heribert Schunkert, Wibke Reinhard |
| Abstract |
Arrhythmogenic Right Ventricular Cardiomyopathy (ARVC) is an inherited disease mainly found in young people causing malignant arrhythmias which can result in sudden cardiac death. Due to unspecific symptoms the diagnosis of ARVC is still challenging and requires clinical testing and expert knowledge. Genetic testing of index patients is helpful in the primary diagnosis and further testing of family members may allow for prevention of sudden cardiac death. We report a case of newly diagnosed ARVC where genetic testing identified a novel familial frame-shift mutation in the PKP2 gene. Screening of the family members identified both children and the father as mutation carriers following an autosomal-dominant inheritance pattern. Our findings emphasize the importance of genetic family screening after the identification of a causative mutation in an index case. |
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 % |
|---|---|---|
| Scientists | 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 % |
|---|---|---|
| Argentina | 1 | 3% |
| Canada | 1 | 3% |
| Unknown | 27 | 93% |
Demographic breakdown
| Readers by professional status | Count | As % |
|---|---|---|
| Student > Ph. D. Student | 4 | 14% |
| Researcher | 4 | 14% |
| Student > Postgraduate | 3 | 10% |
| Student > Bachelor | 2 | 7% |
| Librarian | 2 | 7% |
| Other | 6 | 21% |
| Unknown | 8 | 28% |
| Readers by discipline | Count | As % |
|---|---|---|
| Medicine and Dentistry | 9 | 31% |
| Biochemistry, Genetics and Molecular Biology | 3 | 10% |
| Agricultural and Biological Sciences | 3 | 10% |
| Unspecified | 1 | 3% |
| Nursing and Health Professions | 1 | 3% |
| Other | 2 | 7% |
| Unknown | 10 | 34% |
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 24 December 2015.
All research outputs
#22,759,802
of 25,374,647 outputs
Outputs from BMC Medical Genomics
#2,010
of 2,444 outputs
Outputs of similar age
#338,843
of 396,510 outputs
Outputs of similar age from BMC Medical Genomics
#38
of 43 outputs
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So far Altmetric has tracked 2,444 research outputs from this source. They receive a mean Attention Score of 4.4. This one is in the 1st percentile – i.e., 1% of its peers scored the same or lower than it.
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We're also able to compare this research output to 43 others from the same source and published within six weeks on either side of this one. This one is in the 1st percentile – i.e., 1% of its contemporaries scored the same or lower than it.