Evidence map›Paper›PMID 33049940›Full record

ArticleGenes2020

X-Linked Duchenne-Type Muscular Dystrophy in Jack Russell Terrier Associated with a Partial Deletion of the Canine

Barbara Brunetti, Luisa V Muscatello, Anna Letko, Valentina Papa, Giovanna Cenacchi, Marco Grillini, Leonardo Murgiano, Vidhya Jagannathan, Cord Drögemüller

Open access · goldAbstract readCase Reports
In one paragraph

Article in Genes, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 8 papers.

0numbers the graph read from it
0cells of the map it votes in
8citing papers in PubMed
0.7field-weighted citation impact, top 32% of its field
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

8 citing papers in PubMed, 9 citations in OpenAlex.

  1. Article
  2. Genes · 2023
    Article
  3. Article
  4. Dystrophin (International journal of molecular sciences · 2023
    Article
  5. Review
  6. A Nonsense Variant in theAnimals : an open access journal from MDPI · 2022
    Article
  7. Article
  8. Review
4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

9 authors at 3 institutions in 3 countries.

Barbara BrunettiDepartment of Veterinary Medical Sciences, University of Bologna, 40064 Bologna, Italy.
Luisa V MuscatelloDepartment of Veterinary Medical Sciences, University of Bologna, 40064 Bologna, Italy.ORCID 0000-0003-4653-0624
Anna LetkoInstitute of Genetics, Vetsuisse Faculty, University of Bern, 3001 Bern, Switzerland.ORCID 0000-0002-6521-1285
Valentina PapaDepartment of Biomedical and Neuromotor Sciences, University of Bologna, 40138 Bologna, Italy.ORCID 0000-0002-0718-2965
Giovanna CenacchiDepartment of Biomedical and Neuromotor Sciences, University of Bologna, 40138 Bologna, Italy.ORCID 0000-0001-5824-3118
Marco GrilliniPathology Unit, S Orsola Malpighi Hospital, University of Bologna, 40138 Bologna, Italy.
Leonardo MurgianoInstitute of Genetics, Vetsuisse Faculty, University of Bern, 3001 Bern, Switzerland.
Vidhya JagannathanInstitute of Genetics, Vetsuisse Faculty, University of Bern, 3001 Bern, Switzerland.ORCID 0000-0002-8155-0041
Cord DrögemüllerInstitute of Genetics, Vetsuisse Faculty, University of Bern, 3001 Bern, Switzerland.ORCID 0000-0001-9773-522X
University of Bern · CHUniversity of Bologna · ITIRCCS Azienda Ospedliero-Universitaria di Bologna Policlinico di Sant'Orsola · IT

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

A 9-month old male Jack Russell Terrier started showing paraparesis of the hindlimbs after a walk. Hospitalized, the dog went into cardiac arrest, and later died. Necroscopic examination revealed a severe thickness of the diaphragm, esophagus, and base of the tongue, leading to the diagnosis of muscular dystrophy. The histology confirmed the marked size variation, regeneration, and fibrosis replacement of the skeletal muscle fibers. Immunohistochemistry demonstrated the absence of dystrophin confirming the diagnosis. Transmission electron microscopy showed disarrangement of skeletal muscle fibers. Finally, whole-genome sequencing identified a ~368kb deletion spanning 19 exons of the canine dystrophin (

Indexed as

Chromosome DeletionGenes, X-LinkedAnimalsDogsDystrophinGenetic Diseases, X-LinkedMaleMuscle, SkeletalMuscular Dystrophy, DuchenneMutationDystrophincanineDuchennedystrophinopathyimmunohistochemistryprecision medicine

Identifiers

PMID33049940
PMCPMC7600251
OpenAlexW3092158219

What OpenQuestion holds

Textmetadata
LicenceCC BY
Read underepoch 390

Registered trials

None linked

Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.