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Exome sequencing reveals independent SGCD deletions causing limb girdle muscular dystrophy in Boston terriers

Overview of attention for article published in Skeletal Muscle, July 2017
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About this Attention Score

  • In the top 25% of all research outputs scored by Altmetric
  • Among the highest-scoring outputs from this source (#24 of 303)
  • High Attention Score compared to outputs of the same age (88th percentile)

Mentioned by

blogs
2 blogs
twitter
9 tweeters
facebook
3 Facebook pages

Citations

dimensions_citation
11 Dimensions

Readers on

mendeley
20 Mendeley
citeulike
1 CiteULike
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Title
Exome sequencing reveals independent SGCD deletions causing limb girdle muscular dystrophy in Boston terriers
Published in
Skeletal Muscle, July 2017
DOI 10.1186/s13395-017-0131-0
Pubmed ID
Authors

Melissa L. Cox, Jacquelyn M. Evans, Alexander G. Davis, Ling T. Guo, Jennifer R. Levy, Alison N. Starr-Moss, Elina Salmela, Marjo K. Hytönen, Hannes Lohi, Kevin P. Campbell, Leigh Anne Clark, G. Diane Shelton

Abstract

Limb-girdle muscular dystrophies (LGMDs) are a heterogeneous group of inherited autosomal myopathies that preferentially affect voluntary muscles of the shoulders and hips. LGMD has been clinically described in several breeds of dogs, but the responsible mutations are unknown. The clinical presentation in dogs is characterized by marked muscle weakness and atrophy in the shoulder and hips during puppyhood. Following clinical evaluation, the identification of the dystrophic histological phenotype on muscle histology, and demonstration of the absence of sarcoglycan-sarcospan complex by immunostaining, whole exome sequencing was performed on five Boston terriers: one affected dog and its three family members and one unrelated affected dog. Within sarcoglycan-δ (SGCD), a two base pair deletion segregating with LGMD in the family was discovered, and a deletion encompassing exons 7 and 8 was found in the unrelated dog. Both mutations are predicted to cause an absence of SGCD protein, confirmed by immunohistochemistry. The mutations are private to each family. Here, we describe the first cases of canine LGMD characterized at the molecular level with the classification of LGMD2F.

Twitter Demographics

The data shown below were collected from the profiles of 9 tweeters who shared this research output. Click here to find out more about how the information was compiled.

Mendeley readers

The data shown below were compiled from readership statistics for 20 Mendeley readers of this research output. Click here to see the associated Mendeley record.

Geographical breakdown

Country Count As %
Unknown 20 100%

Demographic breakdown

Readers by professional status Count As %
Other 6 30%
Student > Ph. D. Student 3 15%
Student > Postgraduate 2 10%
Student > Bachelor 2 10%
Student > Master 2 10%
Other 4 20%
Unknown 1 5%
Readers by discipline Count As %
Medicine and Dentistry 7 35%
Biochemistry, Genetics and Molecular Biology 3 15%
Veterinary Science and Veterinary Medicine 3 15%
Nursing and Health Professions 1 5%
Computer Science 1 5%
Other 1 5%
Unknown 4 20%

Attention Score in Context

This research output has an Altmetric Attention Score of 19. 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 05 September 2017.
All research outputs
#1,171,517
of 16,534,657 outputs
Outputs from Skeletal Muscle
#24
of 303 outputs
Outputs of similar age
#30,646
of 269,447 outputs
Outputs of similar age from Skeletal Muscle
#1
of 1 outputs
Altmetric has tracked 16,534,657 research outputs across all sources so far. Compared to these this one has done particularly well and is in the 92nd percentile: it's in the top 10% of all research outputs ever tracked by Altmetric.
So far Altmetric has tracked 303 research outputs from this source. They typically receive more attention than average, with a mean Attention Score of 7.9. This one has done particularly well, scoring higher than 92% 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 269,447 tracked outputs that were published within six weeks on either side of this one in any source. This one has done well, scoring higher than 88% of its contemporaries.
We're also able to compare this research output to 1 others from the same source and published within six weeks on either side of this one. This one has scored higher than all of them