Evidence map›Paper›PMID 39940884›Full record

ArticleInternational journal of molecular sciences2025

Adult Leigh Syndrome Associated with the m.15635T>C Mitochondrial DNA Variant Affecting the Cytochrome

Concetta Valentina Tropeano, Chiara La Morgia, Alessandro Achilli, Luisa Iommarini, Gaia Tioli, Leonardo Caporali, Anna Olivieri, Maria Lucia Valentino, Rocco Liguori, Piero Barboni and 6 more

Abstract readCase Reports
In one paragraph

Article in International journal of molecular sciences, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.

0numbers the graph read from it
0cells of the map it votes in
2citing 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

2 citing papers in PubMed.

  1. The role of impaired mitochondrial function in neurological manifestations of mitochondrial diseases.Mammalian genome : official journal of the International Mammalian Genome Society · 2026
    Review
  2. 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

16 authors.

Concetta Valentina TropeanoProgramma di Neurogenetica, IRCCS Istituto delle Scienze Neurologiche di Bologna, 40139 Bologna, Italy.
Chiara La MorgiaProgramma di Neurogenetica, IRCCS Istituto delle Scienze Neurologiche di Bologna, 40139 Bologna, Italy.ORCID 0000-0002-4639-8929
Alessandro AchilliDepartment of Biology and Biotechnology "L. Spallanzani", University of Pavia, 27100 Pavia, Italy.ORCID 0000-0001-6871-3451
Luisa IommariniDepartment of Pharmacy and Biotechnology (FABIT), University of Bologna, 40126 Bologna, Italy.ORCID 0000-0002-6804-7302
Gaia TioliDepartment of Pharmacy and Biotechnology (FABIT), University of Bologna, 40126 Bologna, Italy.ORCID 0000-0002-5405-9150
Leonardo CaporaliProgramma di Neurogenetica, IRCCS Istituto delle Scienze Neurologiche di Bologna, 40139 Bologna, Italy.ORCID 0000-0002-0666-4380
Anna OlivieriDepartment of Biology and Biotechnology "L. Spallanzani", University of Pavia, 27100 Pavia, Italy.ORCID 0000-0002-3941-8098
Maria Lucia ValentinoProgramma di Neurogenetica, IRCCS Istituto delle Scienze Neurologiche di Bologna, 40139 Bologna, Italy.
Rocco LiguoriProgramma di Neurogenetica, IRCCS Istituto delle Scienze Neurologiche di Bologna, 40139 Bologna, Italy.ORCID 0000-0002-1815-1013
Piero BarboniStudio Oculistico d'Azeglio, 40123 Bologna, Italy.ORCID 0000-0002-0118-4177
Andrea MartinuzziDepartment of Public Health and Pediatric Sciences, University of Torino, 10126 Torino, Italy.ORCID 0000-0002-0319-3579
Caterina TononDepartment of Biomedical and NeuroMotor Sciences (DIBINEM), University of Bologna, 40138 Bologna, Italy.ORCID 0000-0002-0506-499X
Raffaele LodiDepartment of Biomedical and NeuroMotor Sciences (DIBINEM), University of Bologna, 40138 Bologna, Italy.
Antonio TorroniDepartment of Biology and Biotechnology "L. Spallanzani", University of Pavia, 27100 Pavia, Italy.ORCID 0000-0002-4163-4478
Valerio CarelliProgramma di Neurogenetica, IRCCS Istituto delle Scienze Neurologiche di Bologna, 40139 Bologna, Italy.ORCID 0000-0003-4923-6404
Anna Maria GhelliProgramma di Neurogenetica, IRCCS Istituto delle Scienze Neurologiche di Bologna, 40139 Bologna, Italy.ORCID 0000-0003-0830-0000

Funding

Italian Ministry of Health Ricerca Corrente to VC, AG and LC
6 · The paper itself

Abstract

We report on a sporadic patient suffering Leigh syndrome characterized by bilateral lesions in the lenticular nuclei and spastic dystonia, intellectual disability, sensorineural deafness, hypertrophic cardiomyopathy, exercise intolerance, and retinitis pigmentosa. Complete sequencing of mitochondrial DNA revealed the heteroplasmic nucleotide change m.15635T>C affecting a highly conserved amino acid position (p.Ser297Pro) in the cytochrome

Indexed as

Cytochromes bDNA, MitochondrialLeigh DiseaseAdultHumansCytochromes bDNA, MitochondrialLeigh syndromeMT-CYBmtDNARespiratory complex III

Identifiers

PMID39940884
PMCPMC11817157

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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.