Evidence map›Paper›PMID 39967430›Full record

ArticleJournal of neuromuscular diseases2024

Distinct whole-body muscle MRI imaging patterns in PAX7-congenital myopathy: A case report.

Göknur Haliloğlu, Sandra Donkervoort, Sibel Öz Yıldız, Abigail Potticary, Ying Hu, Lynn Pais, Robert Y Carlier, Helge Amthor, Üstün Aydıngöz, Carsten G Bönnemann

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PubMed Full text at PMC Publisher
In one paragraph

Article in Journal of neuromuscular diseases, 2024. 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. Epigenetic, Genetic, and Functional Germline Alterations ofCurrent issues in molecular biology · 2026
    Review
  2. Article
  3. 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

10 authors.

Göknur HaliloğluDepartment of Pediatrics, Division of Pediatric Neurology, Hacettepe University Faculty of Medicine, Ankara, Turkey.ORCID 0000-0003-1813-275X
Sandra DonkervoortNeuromuscular and Neurogenetic Disorders of Childhood Section, Neurogenetics Branch, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, Maryland, USA.
Sibel Öz YıldızDepartment of Pediatrics, Division of Pediatric Neurology, Hacettepe University Faculty of Medicine, Ankara, Turkey.
Abigail PotticaryNeuromuscular and Neurogenetic Disorders of Childhood Section, Neurogenetics Branch, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, Maryland, USA.
Ying HuNeuromuscular and Neurogenetic Disorders of Childhood Section, Neurogenetics Branch, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, Maryland, USA.
Lynn PaisCenter for Mendelian Genomics, Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, Massachusetts, USA.
Robert Y CarlierDepartment of Radiology, Assistance Publique-Hôpitaux de Paris (AP-HP), DMU Smart Imaging, Raymond Poincaré Teaching Hospital, Garches, France.
Helge AmthorService de Neurologie et Ré animation Pédiatriques, AP-HP. Université Paris-Saclay, Hôpital Raymond Poincaré, Garches, France.
Üstün AydıngözDepartment of Radiology, Hacettepe University Faculty of Medicine, Ankara, Turkey.
Carsten G BönnemannNeuromuscular and Neurogenetic Disorders of Childhood Section, Neurogenetics Branch, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, Maryland, USA.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

PAX7 is a myogenesis transcription factor important for satellite cell specification and function and thus involved in muscle growth, maintenance, repair and regeneration. Recently, a new autosomal recessive congenital myopathy was described that is caused by biallelic variants in

Indexed as

Muscle, SkeletalMyotonia CongenitaPAX7 Transcription FactorFemaleHumansMagnetic Resonance ImagingMaleMutation, MissenseWhole Body ImagingPAX7 protein, humanPAX7 Transcription Factorcongenital myopathyPAX7satellite cellswhole-body muscle MRI

Identifiers

PMID39967430
PMCPMC13108005

What OpenQuestion holds

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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.