Evidence map›Paper›PMID 34165507›Full record

ArticleBrain : a journal of neurology2021

Myopathic mitochondrial DNA depletion syndrome associated with biallelic variants in LIG3.

Federica Invernizzi, Andrea Legati, Alessia Nasca, Eleonora Lamantea, Barbara Garavaglia, Mirjana Gusic, Robert Kopajtich, Holger Prokisch, Massimo Zeviani, Costanza Lamperti and 1 more

Erratum issuedAbstract readComment
PubMed Full text at PMC Publisher
In one paragraph

Article in Brain : a journal of neurology, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. An erratum has been issued. Cited by 7 papers.

0numbers the graph read from it
0cells of the map it votes in
7citing 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

7 citing papers in PubMed.

  1. Novel Biallelic LIG3 Mutations Causing Lethal Phenotype With Immunodeficiency.American journal of medical genetics. Part A · 2026
    Article
  2. Article
  3. Article
  4. Article
  5. Biallelic variants inmedRxiv : the preprint server for health sciences · 2024
    Article
  6. Article
  7. Mitochondrial Retinopathies.International journal of molecular sciences · 2021
    Review
4 · The record

Corrections and comments

5 · Who and what money

Authors and funding

11 authors.

Federica InvernizziUnit of Medical Genetics and Neurogenetics, Fondazione IRCCS Istituto Neurologico Carlo Besta, 20126 Milan, Italy.
Andrea LegatiUnit of Medical Genetics and Neurogenetics, Fondazione IRCCS Istituto Neurologico Carlo Besta, 20126 Milan, Italy.
Alessia NascaUnit of Medical Genetics and Neurogenetics, Fondazione IRCCS Istituto Neurologico Carlo Besta, 20126 Milan, Italy.
Eleonora LamanteaUnit of Medical Genetics and Neurogenetics, Fondazione IRCCS Istituto Neurologico Carlo Besta, 20126 Milan, Italy.ORCID 0000-0001-5090-6028
Barbara GaravagliaUnit of Medical Genetics and Neurogenetics, Fondazione IRCCS Istituto Neurologico Carlo Besta, 20126 Milan, Italy.
Mirjana GusicInstitute of Human Genetics, School of Medicine, Technische Universität München, 81675 Munich, Germany.
Robert KopajtichInstitute of Human Genetics, School of Medicine, Technische Universität München, 81675 Munich, Germany.
Holger ProkischInstitute of Human Genetics, School of Medicine, Technische Universität München, 81675 Munich, Germany.
Massimo ZevianiDepartment of Neurosciences, University of Padova, 35128 Padova, Italy.
Costanza LampertiUnit of Medical Genetics and Neurogenetics, Fondazione IRCCS Istituto Neurologico Carlo Besta, 20126 Milan, Italy.
Daniele GhezziUnit of Medical Genetics and Neurogenetics, Fondazione IRCCS Istituto Neurologico Carlo Besta, 20126 Milan, Italy.ORCID 0000-0002-6564-3766

Funding

Medical Research Council MC_UP_1002/1MRF_ MRF-155-0002-RG-ZEVIA
6 · The paper itself

Abstract

PubMed holds no abstract for this paper.

Indexed as

Muscular DiseasesDNA Ligase ATPDNA, MitochondrialHumansPoly-ADP-Ribose Binding ProteinsDNA Ligase ATPDNA, MitochondrialLIG3 protein, humanPoly-ADP-Ribose Binding Proteins

Identifiers

PMID34165507
PMCPMC8536928

What OpenQuestion holds

Textmetadata
LicenceCC BY-NC
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.