Evidence map›Paper›PMID 40502454›Full record

ArticleMolecular genetics and metabolism reports2025

Tissue-specific mitochondrial DNA,

Sylvia Rose, Aurélien Trimouille, Didier Lacombe, Edoardo Malfatti, Zahra Assouline, Julie Steffann, Isabelle Desguerre, Arnold Munnich, Agnès Rötig, Giulia Barcia

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

Article in Molecular genetics and metabolism reports, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.

0numbers the graph read from it
0cells of the map it votes in
1citing 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

1 citing paper in PubMed.

  1. 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.

Sylvia RoseUniversité Paris Cité, Institut Imagine, Génétique des maladies mitochondriales, INSERM UMR1163, Paris, France.
Aurélien TrimouilleService de Génétique Médicale, CHU de Bordeaux-GH Pellegrin, Bordeaux, France.
Didier LacombeService de Génétique Médicale, CHU de Bordeaux-GH Pellegrin, Bordeaux, France.
Edoardo MalfattiService d'Histologie Département de Pathologie, Hôpital Universitaire Henri Mondor, Paris, France.
Zahra AssoulineUniversité Paris Cité, Institut Imagine, Génétique des maladies mitochondriales, INSERM UMR1163, Paris, France.
Julie SteffannUniversité Paris Cité, Institut Imagine, Génétique des maladies mitochondriales, INSERM UMR1163, Paris, France.
Isabelle DesguerreService de Neuropédiatrie, Hôpital Necker Enfants Malades, Paris, France.
Arnold MunnichUniversité Paris Cité, Institut Imagine, Génétique des maladies mitochondriales, INSERM UMR1163, Paris, France.
Agnès RötigUniversité Paris Cité, Institut Imagine, Génétique des maladies mitochondriales, INSERM UMR1163, Paris, France.
Giulia BarciaUniversité Paris Cité, Institut Imagine, Génétique des maladies mitochondriales, INSERM UMR1163, Paris, France.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Mitochondrial myopathies are progressive muscle disorders caused by impaired mitochondrial oxidative phosphorylation, leading to reduced adenosine triphosphate production. Skeletal muscles have a high energy demand and are often the first to be affected. In addition to muscular symptoms (muscle weakness, effort intolerance, fatigue), the disease can affect the central and peripheral nervous systems, as well as the heart, liver, kidneys and endocrine system (diabetes). Molecular genetic diagnostic is currently based on leukocyte DNA obtained from blood samples, considered less invasive than muscle biopsy. We report four patients from three families with mitochondrial myopathy associated with ptosis, sensorineural hearing loss, epilepsy, tubulointerstitial nephropathy and cardiomyopathy. Genetic studies identified

Indexed as

HeteroplasmyMitochondrial myopathymtDNAMT-TFMuscle biopsy

Identifiers

PMID40502454
PMCPMC12156215

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.