Evidence map›Paper›PMID 42650767›Full record

ArticleBiomolecules2026

Congenital Myasthenic Syndrome in Doberman Pinscher Dogs Is Associated with a Homozygous Missense Variant in

G Diane Shelton, Joan R Coates, Janet E Steiss, Ling T Guo, Simon R Platt, Katie M Minor, Steven G Friedenberg, Jonah N Cullen, Garrett Bullock, Elizabeth A Hansen and 2 more

Abstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Biomolecules, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

0numbers the graph read from it
0cells of the map it votes in
0citing papers in PubMed
–field-weighted citation impact
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

0 citing papers in PubMed.

No citing paper in PubMed yet.

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

12 authors.

G Diane SheltonDepartment of Pathology, School of Medicine, University of California San Diego, La Jolla, CA 92093-0709, USA.ORCID 0000-0002-3332-1359
Joan R CoatesDepartment of Veterinary Medicine and Surgery, College of Veterinary Medicine, University of Missouri, Columbia, MO 65211, USA.ORCID 0000-0002-9267-5528
Janet E SteissScott-Richey Research Center, College of Veterinary Medicine, Auburn University, Auburn, AL 36849, USA.
Ling T GuoDepartment of Pathology, School of Medicine, University of California San Diego, La Jolla, CA 92093-0709, USA.
Simon R PlattDepartment of Small Animal Medicine and Surgery, College of Veterinary Medicine, University of Georgia, Athens, GA 30602, USA.
Katie M MinorDepartment of Veterinary Clinical Sciences, College of Veterinary Medicine, University of Minnesota, St. Paul, MN 55108, USA.ORCID 0000-0002-5472-5088
Steven G FriedenbergDepartment of Veterinary Clinical Sciences, College of Veterinary Medicine, University of Minnesota, St. Paul, MN 55108, USA.ORCID 0000-0002-7510-2322
Jonah N CullenDepartment of Veterinary Clinical Sciences, College of Veterinary Medicine, University of Minnesota, St. Paul, MN 55108, USA.ORCID 0000-0001-5144-8524
Garrett BullockCanine Genetics Laboratory, Department of Pathobiology and Integrative Biomedical Sciences, College of Veterinary Medicine, University of Missouri, Columbia, MO 65211, USA.ORCID 0000-0002-9231-8758
Elizabeth A HansenCanine Genetics Laboratory, Department of Pathobiology and Integrative Biomedical Sciences, College of Veterinary Medicine, University of Missouri, Columbia, MO 65211, USA.
Martin L KatzCanine Genetics Laboratory, Department of Pathobiology and Integrative Biomedical Sciences, College of Veterinary Medicine, University of Missouri, Columbia, MO 65211, USA.ORCID 0000-0002-2582-9187
Gary S JohnsonCanine Genetics Laboratory, Department of Pathobiology and Integrative Biomedical Sciences, College of Veterinary Medicine, University of Missouri, Columbia, MO 65211, USA.ORCID 0000-0003-2225-3204

Funding

Immunological Basis of Autoimmune Addison's Disease in a Novel Canine Model SystemK01OD027058 · OD · UNIVERSITY OF MINNESOTA · PI FRIEDENBERG, STEVEN GENE · 2019 to 2023
$724k
NIH HHS K01 OD027058Orthopedic Foundation for Animals
6 · The paper itself

Abstract

Hereditary neuromuscular disorders in dogs can be difficult to classify since variants in different genes can result in similar clinical signs or variable phenotypes can be associated with the same DNA sequence variant. A disorder known for many years as Dancing Doberman Disease, suspected to be neuropathy or neuromyopathy, is characterized by repeated lifting and shifting of the pelvic limbs while standing and frequent sitting. More recently, Doberman Pinschers have been identified with a different and more severe phenotype characterized by a crouched stance and bunny hopping gait in the pelvic limbs that is termed duck walking. Dogs with both phenotypes show pelvic limb weakness, muscle atrophy, and fatigue, and clinical signs can progress to involve the thoracic limbs. These distinct phenotypes were evaluated clinically, histologically, and by whole-genome sequencing and genotyping a large cohort of affected and unaffected Doberman Pinschers. The same homozygous missense variant in

Indexed as

Dog DiseasesMutation, MissenseMyasthenic Syndromes, CongenitalAnimalsDogsFemaleHomozygotePhenotypecaninemuscleneuromuscular junctionpost-synaptic membrane

Identifiers

PMID42650767
PMCPMC13511124

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Registered trials

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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.