Evidence map›Paper›PMID 40226307›Full record

ArticleHuman mutation2025

Variants in CAPN3 Causing Autosomal Dominant Limb-Girdle Muscular Dystrophy Combined With Calpain-3 Deficiency.

Thomas Krag, Emily Nasho, Lauren Brady, Camille Verebi, France Leturcq, Edoardo Malfatti, Morten Duno, Mark Tarnopolsky, John Vissing

Abstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Human mutation, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 3 papers.

0numbers the graph read from it
0cells of the map it votes in
3citing 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

3 citing papers in PubMed.

  1. Review
  2. Review
  3. RecurrentInternational journal of molecular sciences · 2025
    Article
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.

Thomas KragCopenhagen Neuromuscular Center, Copenhagen University Hospital Rigshospitalet, University of Copenhagen, Copenhagen, Denmark.ORCID 0000-0001-9330-668X
Emily NashoNeuromuscular and Neurometabolic Clinic, McMaster University Medical Centre, Hamilton, Canada.ORCID 0009-0004-9817-1533
Lauren BradyNeuromuscular and Neurometabolic Clinic, McMaster University Medical Centre, Hamilton, Canada.ORCID 0000-0001-9587-471X
Camille VerebiService de Medecine Genomique, Maladies de Systeme et d'Organe-Federation de Genetique et de Medecine Genomique, DMU BioPhyGen, APHP Centre-Universite Paris Cite-Hopital Cochin, Paris, France.ORCID 0000-0002-0524-4827
France LeturcqService de Medecine Genomique, Maladies de Systeme et d'Organe-Federation de Genetique et de Medecine Genomique, DMU BioPhyGen, APHP Centre-Universite Paris Cite-Hopital Cochin, Paris, France.
Edoardo MalfattiUniversite Paris Est, U955, IMRB, INSERM, APHP, Centre de Reference de Pathologie Neuromusculaire Nord-Est-Ile-de-France, Filnemus, Henri Mondor Hospital, Paris, France.ORCID 0000-0001-7871-8600
Morten DunoDepartment of Clinical Genetics, Copenhagen University Hospital Rigshospitalet, Copenhagen, Denmark.ORCID 0000-0002-8436-7744
Mark TarnopolskyNeuromuscular and Neurometabolic Clinic, McMaster University Medical Centre, Hamilton, Canada.ORCID 0000-0003-0312-3746
John VissingCopenhagen Neuromuscular Center, Copenhagen University Hospital Rigshospitalet, University of Copenhagen, Copenhagen, Denmark.ORCID 0000-0001-6144-8544

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

PubMed holds no abstract for this paper.

Indexed as

CalpainMuscle ProteinsMuscular Dystrophies, Limb-GirdleMutationGenes, DominantGenetic Predisposition to DiseaseHumansMalePedigreePhenotypeCalpainCAPN3 protein, humanMuscle Proteinsautosomal dominant calpainopathycalpain-3limb–girdle muscular dystrophy Type D4

Identifiers

PMID40226307
PMCPMC11972127

What OpenQuestion holds

Textmetadata
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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.