Evidence map›Paper›PMID 36404555›Full record

ArticleJournal of neuromuscular diseases2023

A Multisystem Mitochondrial Disease Caused by a Novel MT-TL1 mtDNA Variant: A Case Report.

Domenico Giannese, Vincenzo Montano, Piervito Lopriore, Claudia Nesti, Annalisa LoGerfo, Maria Adelaide Caligo, Flavio Dal Canto, Gianandrea Pasquinelli, Angelo Giovanni Bonadio, Diego Moriconi and 2 more

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

Article in Journal of neuromuscular diseases, 2023. 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
0.1field-weighted citation impact, top 56% 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

1 citing paper in PubMed, 1 citations in OpenAlex.

  1. 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

12 authors at 4 institutions in 1 country.

Domenico GianneseDepartment of Clinical and Experimental Medicine, Nephrology, Transplant and Dialysis Division, University Hospital of Pisa, Pisa, Italy.
Vincenzo MontanoDepartment of Clinical and Experimental Medicine, Neurological Clinic, University of Pisa, Pisa, Italy.
Piervito LoprioreDepartment of Clinical and Experimental Medicine, Neurological Clinic, University of Pisa, Pisa, Italy.
Claudia NestiMolecular Medicine, IRCCS Fondazione Stella Maris, Pisa, Italy.
Annalisa LoGerfoLaboratory of Molecular Genetics, Azienda Ospedaliero-Universitaria Pisana, Pisa, Italy.
Maria Adelaide CaligoLaboratory of Molecular Genetics, Azienda Ospedaliero-Universitaria Pisana, Pisa, Italy.
Flavio Dal CantoMolecular Medicine, IRCCS Fondazione Stella Maris, Pisa, Italy.
Gianandrea PasquinelliDepartment of Experimental, Biotechnology and Methods in Laboratory Medicine, Diagnostic and Specialty Medicine (DIMES), University of Bologna, Bologna, Italy.
Angelo Giovanni BonadioDepartment of Translational Research on New Technologies in Medicine and Surgery, University of Pisa, Pisa, Italy.
Diego MoriconiDepartment of Surgical, Medical, Molecular and Critical Area Pathology, University of Pisa, Pisa, Italy.
Gabriele SicilianoDepartment of Clinical and Experimental Medicine, Neurological Clinic, University of Pisa, Pisa, Italy.
Michelangelo MancusoDepartment of Clinical and Experimental Medicine, Neurological Clinic, University of Pisa, Pisa, Italy.
University of Pisa · ITAzienda Ospedaliera Universitaria Pisana · ITFondazione Stella Maris · ITAzienda USL di Bologna · IT

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

backgroundMitochondrial tRNA (MTT) genes are hotspot for mitochondrial DNA mutation and are responsible of half mitochondrial disease. MTT mutations are associated with a broad spectrum of phenotype often with complex multisystem involvement and complex genotype-phenotype correlations. MT-TL1 mutations, among which the m.3243A>G mutation is the most frequent, are associated with myopathy, maternal inherited diabetes and deafness, MELAS, cardiomyopathy, and focal segmental glomerulosclerosis. CASE STUDY: Here we report the case of an Italian 49-years old female presenting with encephalomyopathy, chronic proteinuric kidney disease and a new heteroplasmic m.3274_3275delAC MT-TL1 gene mutation.

conclusionsOur case demonstrates a systemic mitochondrial disease caused by the heteroplasmic m.3274_3275delAC MT-TL1 gene mutation, not yet described in the literature. A mitochondrial disease should be suspected in case of complex multisystem phenotypes, including steroid-resistant nephrotic syndrome with multisystemic involvement.

Indexed as

MELAS SyndromeMitochondrial DiseasesDNA, MitochondrialFemaleHumansMitochondriaMutationDNA, Mitochondrialglomerulosclerosiskidney diseasemitochondrial diseasesmitochondrial myopathiesmtDNA

Identifiers

PMID36404555
PMCPMC9881017
OpenAlexW4309455799

What OpenQuestion holds

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Registered trials

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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.