Evidence map›Paper›PMID 38327089›Full record

ArticleAnnals of clinical and translational neurology2024

Biallelic variants in GTPBP3: New patients, phenotypic spectrum, and outcome.

Francesca Nardecchia, Rosalba Carrozzo, Alice Innocenti, Alessandra Torraco, Valerio Zaccaria, Teresa Rizza, Francesco Pisani, Enrico Bertini, Vincenzo Leuzzi

Open access · goldAbstract readCase Reports
PubMed Full text at PMC Publisher
In one paragraph

Article in Annals of clinical and translational neurology, 2024. 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
0.7field-weighted citation impact, top 33% of its field
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, 3 citations in OpenAlex.

  1. Article
  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

9 authors at 2 institutions in 1 country.

Francesca NardecchiaUnit of Child Neurology and Psychiatry, Department of Human Neuroscience, Sapienza University of Rome, Rome, Italy.ORCID 0000-0002-0808-2827
Rosalba CarrozzoUnit of Cell Biology and Diagnosis of Mitochondrial Disorders, Laboratory of Medical Genetics, Bambino Gesù Children's Hospital IRCCS, Rome, Italy.ORCID 0000-0002-3327-4054
Alice InnocentiUnit of Child Neurology and Psychiatry, Department of Human Neuroscience, Sapienza University of Rome, Rome, Italy.
Alessandra TorracoUnit of Cell Biology and Diagnosis of Mitochondrial Disorders, Laboratory of Medical Genetics, Bambino Gesù Children's Hospital IRCCS, Rome, Italy.
Valerio ZaccariaUnit of Child Neurology and Psychiatry, Department of Human Neuroscience, Sapienza University of Rome, Rome, Italy.
Teresa RizzaUnit of Cell Biology and Diagnosis of Mitochondrial Disorders, Laboratory of Medical Genetics, Bambino Gesù Children's Hospital IRCCS, Rome, Italy.
Francesco PisaniUnit of Child Neurology and Psychiatry, Department of Human Neuroscience, Sapienza University of Rome, Rome, Italy.
Enrico BertiniNeuromuscular Disorders Research Unit, Bambino Gesù Children's Hospital IRCCS, Rome, Italy.
Vincenzo LeuzziUnit of Child Neurology and Psychiatry, Department of Human Neuroscience, Sapienza University of Rome, Rome, Italy.ORCID 0000-0002-2314-6139
Sapienza University of Rome · ITBambino Gesù Children's Hospital · IT

Funding

Italian Ministry of Health Ricerca CorrenteItalian Ministry of Health Ricerca Finalizzata RF-2016-02361241
6 · The paper itself

Abstract

introductionCOXPD23 is a rare mitochondrial disease caused by biallelic pathogenic variants in GTPBP3. We report on two siblings with a mild phenotype. CASE REPORTS: The young boy presented with global developmental delay, ataxic gait and upper limbs tremor, and the older sister with absence seizures and hypertrophic cardiomyopathy. Respiratory chain impairment was confirmed in muscle. DISCUSSION: Reviewed cases point toward clustering around two prevalent phenotypes: an early-onset presentation with severe fatal encephalopathy and a late milder presentation with global developmental delay/ID and cardiopathy, with the latter as, is the main feature. Our patients showed an intermediate phenotype with intrafamilial variability.

Indexed as

Mitochondrial DiseasesSeizuresGTP-Binding ProteinsHumansMaleMitochondriaPhenotypeGTP-Binding ProteinsGTPBP3 protein, human

Identifiers

PMID38327089
PMCPMC10963292
OpenAlexW4391635558

What OpenQuestion holds

Textmetadata
LicenceCC BY-NC-ND
Read underepoch 390

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.