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Mendeley readers
Attention Score in Context
| Title |
Low penetrance in facioscapulohumeral muscular dystrophy type 1 with large pathological D4Z4 alleles: a cross-sectional multicenter study
|
|---|---|
| Published in |
Orphanet Journal of Rare Diseases, January 2015
|
| DOI | 10.1186/s13023-014-0218-1 |
| Pubmed ID | |
| Authors |
Emmanuelle Salort-Campana, Karine Nguyen, Rafaelle Bernard, Elisabeth Jouve, Guilhem Solé, Aleksandra Nadaj-Pakleza, Julien Niederhauser, Estelle Charles, Elisabeth Ollagnon, Françoise Bouhour, Sabrina Sacconi, Andoni Echaniz-Laguna, Claude Desnuelle, Christine Tranchant, Christophe Vial, Frederique Magdinier, Marc Bartoli, Marie-Christine Arne-Bes, Xavier Ferrer, Thierry Kuntzer, Nicolas Levy, Jean Pouget, Shahram Attarian |
| Abstract |
BackgroundFacioscapulohumeral muscular dystrophy type 1(FSHD1) is an autosomal dominant disorder associated with the contraction of D4Z4 less than 11 repeat units (RUs) on chromosome 4q35. Penetrance in the range of the largest alleles is poorly known. Our objective was to study the penetrance of FSHD1 in patients carrying alleles ranging between 6 to10 RUs and to evaluate the influence of sex, age, and several environmental factors on clinical expression of the disease.MethodsA cross-sectional multicenter study was conducted in six French and one Swiss neuromuscular centers. 65 FSHD1 affected patients carrying a 4qA allele of 6¿10 RUs were identified as index cases (IC) and their 119 at-risk relatives were included. The age of onset was recorded for IC only. Medical history, neurological examination and manual muscle testing were performed for each subject. Genetic testing determined the allele size (number of RUs) and the 4qA/4qB allelic variant. The clinical status of relatives was established blindly to their genetic testing results. The main outcome was the penetrance defined as the ratio between the number of clinically affected carriers and the total number of carriers.ResultsAmong the relatives, 59 carried the D4Z4 contraction. At the clinical level, 34 relatives carriers were clinically affected and 25 unaffected. Therefore, the calculated penetrance was 57% in the range of 6¿10 RUs. Penetrance was estimated at 62% in the range of 6¿8 RUs, and at 47% in the range of 9¿10 RUs. Moreover, penetrance was lower in women than men. There was no effect of drugs, anesthesia, surgery or traumatisms on the penetrance.ConclusionsPenetrance of FSHD1 is low for largest alleles in the range of 9¿10 RUs, and lower in women than men. This is of crucial importance for genetic counseling and clinical management of patients and families. |
X Demographics
The data shown below were collected from the profiles of 6 X users who shared this research output. Click here to find out more about how the information was compiled.
Geographical breakdown
| Country | Count | As % |
|---|---|---|
| France | 5 | 83% |
| United States | 1 | 17% |
Demographic breakdown
| Type | Count | As % |
|---|---|---|
| Members of the public | 5 | 83% |
| Practitioners (doctors, other healthcare professionals) | 1 | 17% |
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 % |
|---|---|---|
| Student > Bachelor | 7 | 21% |
| Researcher | 4 | 12% |
| Student > Master | 3 | 9% |
| Student > Ph. D. Student | 2 | 6% |
| Professor > Associate Professor | 2 | 6% |
| Other | 5 | 15% |
| Unknown | 10 | 30% |
| Readers by discipline | Count | As % |
|---|---|---|
| Medicine and Dentistry | 8 | 24% |
| Biochemistry, Genetics and Molecular Biology | 5 | 15% |
| Agricultural and Biological Sciences | 4 | 12% |
| Neuroscience | 2 | 6% |
| Social Sciences | 1 | 3% |
| Other | 3 | 9% |
| Unknown | 10 | 30% |
Attention Score in Context
This research output has an Altmetric Attention Score of 4. 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 23 December 2017.
All research outputs
#8,163,460
of 25,373,627 outputs
Outputs from Orphanet Journal of Rare Diseases
#1,188
of 3,105 outputs
Outputs of similar age
#105,048
of 359,545 outputs
Outputs of similar age from Orphanet Journal of Rare Diseases
#15
of 46 outputs
Altmetric has tracked 25,373,627 research outputs across all sources so far. This one has received more attention than most of these and is in the 67th percentile.
So far Altmetric has tracked 3,105 research outputs from this source. They typically receive more attention than average, with a mean Attention Score of 8.2. This one has gotten more attention than average, scoring higher than 61% of its peers.
Older research outputs will score higher simply because they've had more time to accumulate mentions. To account for age we can compare this Altmetric Attention Score to the 359,545 tracked outputs that were published within six weeks on either side of this one in any source. This one has gotten more attention than average, scoring higher than 70% of its contemporaries.
We're also able to compare this research output to 46 others from the same source and published within six weeks on either side of this one. This one has gotten more attention than average, scoring higher than 65% of its contemporaries.