Evidence map›Paper›PMID 35217561›Full record

ArticleCold Spring Harbor molecular case studies2022

m.3685T > C is a novel mitochondrial DNA variant that causes Leigh syndrome.

Jeffrey Jean, Eirini Christodoulou, Xiaowu Gai, Benita Tamrazi, Moin Vera, Wendy G Mitchell, Ryan J Schmidt

Open access · diamondAbstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Cold Spring Harbor molecular case studies, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers, 2 of them syntheses that pooled it.

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

2 citing papers in PubMed, 2 syntheses or guidelines pooled it, 2 citations in OpenAlex.

  1. Pooled it
  2. Pooled it
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

7 authors at 3 institutions in 1 country.

Jeffrey JeanKeck School of Medicine of the University of Southern California, Los Angeles, California 90033, USA.
Eirini ChristodoulouChildren's Hospital Los Angeles, Los Angeles, California 90027, USA.
Xiaowu GaiKeck School of Medicine of the University of Southern California, Los Angeles, California 90033, USA.
Benita TamraziKeck School of Medicine of the University of Southern California, Los Angeles, California 90033, USA.
Moin VeraKaiser Permanente, Oakland, California 94611, USA.
Wendy G MitchellKeck School of Medicine of the University of Southern California, Los Angeles, California 90033, USA.
Ryan J SchmidtKeck School of Medicine of the University of Southern California, Los Angeles, California 90033, USA.ORCID 0000-0001-8789-9917
University of Southern California · USChildren's Hospital of Los Angeles · USKaiser Permanente · US

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Variants in the mitochondrial genome can result in dysfunction of Complex I within the electron transport chain, thus causing disruptions in oxidative phosphorylation. Pathogenic variants in the

Indexed as

Leigh DiseaseMitochondrial DiseasesDNA, MitochondrialFemaleHumansLactic AcidMutationSeizuresDNA, MitochondrialLactic Acidelevated brain lactate level by MRSfocal T2 hyperintense basal ganglia lesiongeneralized clonic seizuresgeneralized tonic seizureshyperalaninemia

Identifiers

PMID35217561
PMCPMC8958915
OpenAlexW4214510129

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.