Evidence map›Paper›PMID 37446359›Full record

ArticleInternational journal of molecular sciences2023

Deep Characterization of a Greek Patient with Desmin-Related Myofibrillar Myopathy and Cardiomyopathy.

Constantinos Papadopoulos, Edoardo Malfatti, Corinne Métay, Boris Keren, Elodie Lejeune, Julien Buratti, Sophia Xirou, Margarita Chrysanthou-Piterou, George K Papadimas

Abstract readCase Reports
PubMed Full text at PMC Publisher
In one paragraph

Article in International journal of molecular sciences, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 3 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
3citing papers in PubMed, 1 pooled it
–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 synthesis or guideline pooled it.

  1. Natural History, Phenotype Spectrum, and Clinical Outcomes of Desmin (Circulation. Genomic and precision medicine · 2025
    Pooled it
  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

9 authors.

Constantinos PapadopoulosFirst Department of Neurology, Eginition Hospital, Medical School, National and Kapodistrian University of Athens, ERN, EURO NMD, 11528 Athens, Greece.
Edoardo MalfattiCentre de Référence de Pathologie Neuromusculaire Nord-Est-Ile-de-France, Université Paris Est, U955 INSERM, EnvA, EFS, IMRB, F-94010 and APHP, Henri Mondor Hospital, 94010 Créteil, France.ORCID 0000-0001-7871-8600
Corinne MétayAPHP, Unité Fonctionnelle de Cardiogénétique et Myogénétique Moléculaire et Cellulaire, Centre de Génétique Moléculaire et Chromosomique, INSERM, Institut de Myologie, Groupe Hospitalier La Pitié-Salpêtrière-Charles Foix, Sorbonne Université, 75013 Paris, France.ORCID 0000-0001-5161-2662
Boris KerenAPHP, Centre de Génétique Moléculaire et Chromosomique, UF Génétique du Développement, GH Pitié-Salpêtrière, 75013 Paris, France.ORCID 0000-0001-6172-8247
Elodie LejeuneAPHP, Centre de Génétique Moléculaire et Chromosomique, UF Génétique du Développement, GH Pitié-Salpêtrière, 75013 Paris, France.
Julien BurattiAPHP, Centre de Génétique Moléculaire et Chromosomique, UF Génétique du Développement, GH Pitié-Salpêtrière, 75013 Paris, France.
Sophia XirouFirst Department of Neurology, Eginition Hospital, Medical School, National and Kapodistrian University of Athens, ERN, EURO NMD, 11528 Athens, Greece.ORCID 0000-0001-8222-091X
Margarita Chrysanthou-PiterouFirst Department of Neurology, Eginition Hospital, Medical School, National and Kapodistrian University of Athens, ERN, EURO NMD, 11528 Athens, Greece.
George K PapadimasFirst Department of Neurology, Eginition Hospital, Medical School, National and Kapodistrian University of Athens, ERN, EURO NMD, 11528 Athens, Greece.ORCID 0000-0003-0163-4091

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Desmin is a class III intermediate filament protein highly expressed in cardiac, smooth and striated muscle. Autosomal dominant or recessive mutations in the desmin gene (

Indexed as

CardiomyopathiesMuscular DiseasesMyopathies, Structural, CongenitalDesminGreeceHumansMuscle, SkeletalMutationDesmincardiomyopathydesminmyofibrillar myopathyribonucleic acid sequencing

Identifiers

PMID37446359
PMCPMC10342265

What OpenQuestion holds

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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.