Evidence map›Paper›PMID 38702428›Full record

ArticleEuropean journal of human genetics : EJHG2024

COQ7 defect causes prenatal onset of mitochondrial CoQ

Ilaria Pettenuzzo, Sara Carli, Ana Sánchez-Cuesta, Federica Isidori, Francesca Montanari, Mina Grippa, Giulia Lanzoni, Irene Ambrosetti, Veronica Di Pisa, Duccio Maria Cordelli and 16 more

Abstract readCase Reports
In one paragraph

Article in European journal of human genetics : EJHG, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 10 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
10citing 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

10 citing papers in PubMed, 1 synthesis or guideline pooled it.

  1. [Advances in the molecular genetics of nuclear gene mutations causing pediatric mitochondrial cardiomyopathy].Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics · 2026
    Pooled it
  2. Article
  3. Review
  4. Article
  5. Review
  6. Gene therapy and mRNA drugs approach for mitochondrial OXPHOS deficiencies.Molecular therapy : the journal of the American Society of Gene Therapy · 2025
    Review
  7. Article
  8. Looking back at 2024 in the European Journal of Human Genetics.European journal of human genetics : EJHG · 2025
    Article
  9. Review
  10. Summer reading in EJHG.European journal of human genetics : EJHG · 2024
    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

26 authors.

Ilaria Pettenuzzo *Department of Medical and Surgical Sciences, Alma Mater Studiorum, University of Bologna, 40138, Bologna, Italy.
Sara Carli *Department of Medical and Surgical Sciences, Alma Mater Studiorum, University of Bologna, 40138, Bologna, Italy.ORCID 0000-0001-8130-5364
Ana Sánchez-CuestaCentro Andaluz de Biología del Desarrollo, Universidad Pablo de Olavide-CSIC-JA and CIBERER, Instituto de Salud Carlos III, Seville, 41013, Spain.
Federica IsidoriMedical Genetics Unit, IRCCS Azienda Ospedaliero-Universitaria di Bologna, 40138, Bologna, Italy.
Francesca MontanariMedical Genetics Unit, IRCCS Azienda Ospedaliero-Universitaria di Bologna, 40138, Bologna, Italy.
Mina GrippaMedical Genetics Unit, IRCCS Azienda Ospedaliero-Universitaria di Bologna, 40138, Bologna, Italy.
Giulia LanzoniDepartment of Medical and Surgical Sciences, Alma Mater Studiorum, University of Bologna, 40138, Bologna, Italy.
Irene AmbrosettiDepartment of Medical and Surgical Sciences, Alma Mater Studiorum, University of Bologna, 40138, Bologna, Italy.
Veronica Di PisaIRCCS Istituto delle Scienze Neurologiche di Bologna, UOC Neuropsichiatria dell'età Pediatrica, Bologna, Italy.
Duccio Maria CordelliDepartment of Medical and Surgical Sciences, Alma Mater Studiorum, University of Bologna, 40138, Bologna, Italy.
Maria Cristina MondardiniPediatric Anesthesia and Intensive Care Unit, Department of Woman's and Child's Health, IRCCS Azienda Ospedaliero-Universitaria di Bologna, Bologna, Italy.ORCID 0000-0002-8398-3166
Tommaso PippucciMedical Genetics Unit, IRCCS Azienda Ospedaliero-Universitaria di Bologna, 40138, Bologna, Italy.ORCID 0000-0001-7737-7963
Luca RagniPediatric Cardiology and Adult Congenital Heart Disease Program, Department of Cardio-Thoracic and Vascular Medicine, IRCCS Azienda Ospedaliero-Universitaria di Bologna, Bologna, Italy.
Giovanna CenacchiDepartment of Biomedical and Neuromotor Sciences, Alma Mater Studiorum University of Bologna, Bologna, Italy.
Roberta CostaDepartment of Biomedical and Neuromotor Sciences, Alma Mater Studiorum University of Bologna, Bologna, Italy.ORCID 0000-0002-2884-6716
Mario LimaPediatric Surgery Department, IRCCS Sant'Orsola-Malpighi Polyclinic, Alma Mater Studiorum-University of Bologna, 40126, Bologna, Italy.
Maria Antonietta CapristoIRCCS Istituto delle Scienze Neurologiche di Bologna, Programma di Neurogenetica, Bologna, Italy.
Concetta Valentina TropeanoIRCCS Istituto delle Scienze Neurologiche di Bologna, Programma di Neurogenetica, Bologna, Italy.
Leonardo CaporaliDepartment of Biomedical and Neuromotor Sciences, Alma Mater Studiorum University of Bologna, Bologna, Italy.
Valerio CarelliDepartment of Biomedical and Neuromotor Sciences, Alma Mater Studiorum University of Bologna, Bologna, Italy.
Elena BrunelliObstetric Unit, IRCCS Azienda Ospedaliero-Universitaria di Bologna University of Bologna, Bologna, Italia.
Monica MaffeiIRCCS Istituto delle Scienze Neurologiche di Bologna, Programma di neuroradiologia con tecniche ad elevata complessità, Bologna, Italia.
Hodman Ahmed SheikhmayeIRCCS Istituto delle Scienze Neurologiche di Bologna, Programma di neuroradiologia con tecniche ad elevata complessità, Bologna, Italia.
Anna FettaDepartment of Medical and Surgical Sciences, Alma Mater Studiorum, University of Bologna, 40138, Bologna, Italy.ORCID 0000-0003-0175-6486
Gloria Brea-CalvoCentro Andaluz de Biología del Desarrollo, Universidad Pablo de Olavide-CSIC-JA and CIBERER, Instituto de Salud Carlos III, Seville, 41013, Spain.ORCID 0000-0001-5536-6868
Caterina GaroneDepartment of Medical and Surgical Sciences, Alma Mater Studiorum, University of Bologna, 40138, Bologna, Italy. caterina.garone@unibo.it.ORCID 0000-0003-4928-1037

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

COQ7 pathogenetic variants cause primary CoQ

Indexed as

Mitochondrial DiseasesUbiquinoneAtaxiaCardiomyopathiesCardiomyopathy, HypertrophicFemaleHumansInfantMaleMitochondrial ProteinsMixed Function OxygenasesMuscle WeaknessMutationOphthalmoplegiaPedigreecoenzyme Q10COQ7 protein, humanMitochondrial ProteinsMixed Function OxygenasesUbiquinone

Identifiers

PMID38702428
PMCPMC11291740

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.