Evidence map›Paper›PMID 34777884›Full record

ArticleCase reports in genetics2021

Whole-Exome Sequencing Identifies a Novel POLG Frameshift Variant in an Adult Patient Presenting with Progressive External Ophthalmoplegia and Mitochondrial DNA Depletion.

Justin Kurtz, Joseph Americo Fernandes, Mahesh Mansukhani, William C Copeland, Ali B Naini

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

Article in Case reports in genetics, 2021. 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
0.1field-weighted citation impact, top 55% 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, 2 citations in OpenAlex.

  1. Article
  2. Expanding the phenotype ofCold Spring Harbor molecular case studies · 2022
    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

5 authors at 3 institutions in 1 country.

Justin KurtzDivision of Personalized Genomic Medicine, Department of Pathology and Cell Biology, Columbia University, 630 W. 168th Street, New York, NY 10032, USA.ORCID https://orcid.org/0000-0002-1969-8635
Joseph Americo FernandesDepartment of Neurological Sciences, University of Nebraska Medical Center, Omaha, NE, USA.
Mahesh MansukhaniDivision of Personalized Genomic Medicine, Department of Pathology and Cell Biology, Columbia University, 630 W. 168th Street, New York, NY 10032, USA.
William C CopelandMitochondrial DNA Replication Group, Genome Integrity and Structural Biology Laboratory, National Institute of Environmental Health Sciences (NIEHS), NIH, Research Triangle Park, NC 27709, USA.
Ali B NainiDivision of Personalized Genomic Medicine, Department of Pathology and Cell Biology, Columbia University, 630 W. 168th Street, New York, NY 10032, USA.ORCID https://orcid.org/0000-0002-8030-1115
Columbia University · USNational Institute of Environmental Health Sciences · USUniversity of Nebraska Medical Center · US

Funding

THERAPEUTIC APPROACHES IN MODELS OF MITOCHONDRIAL DIS.P01HD032062 · NICHD · COLUMBIA UNIVERSITY HEALTH SCIENCES · PI DIMAURO, SALVATORE · 1995 to 2014
$24.4M
Molecular Study Of The Mitochondrial DNA PolymeraseZ01ES065078 · NIEHS · NATIONAL INSTITUTE OF ENVIRONMENTAL HEALTH SCIENCES · PI COPELAND, WILLIAM · 1994 to 2008
$2.8M
Intramural NIH HHS Z01 ES065078NICHD NIH HHS P01 HD032062
6 · The paper itself

Abstract

Mitochondrial DNA (mtDNA) depletion syndromes are a group of autosomal recessive disorders associated with a spectrum of clinical diseases, which include progressive external ophthalmoplegia (PEO). They are caused by variants in nuclear DNA (nDNA) encoded genes, and the gene that encodes for mtDNA polymerase gamma (

Identifiers

PMID34777884
PMCPMC8589515
OpenAlexW3213233848

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.