Evidence map›Paper›PMID 32931937›Full record

ArticleMitochondrion2020

The mitochondrial DNA variant m.9032T > C in MT-ATP6 encoding p.(Leu169Pro) causes a complex mitochondrial neurological syndrome.

Kaz M Knight, Emily Shelkowitz, Austin A Larson, David M Mirsky, Yue Wang, Ting Chen, Lee-Jun Wong, Marisa W Friederich, Johan L K Van Hove

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

Article in Mitochondrion, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 5 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
5citing papers in PubMed, 1 pooled it
0.3field-weighted citation impact, top 46% 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

5 citing papers in PubMed, 1 synthesis or guideline pooled it, 5 citations in OpenAlex.

  1. Pooled it
  2. Review
  3. Article
  4. Article
  5. 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 3 institutions in 2 countries.

Kaz M KnightSection of Clinical Genetics and Metabolism, Department of Pediatrics, University of Colorado, Aurora, CO, USA.
Emily ShelkowitzSection of Clinical Genetics and Metabolism, Department of Pediatrics, University of Colorado, Aurora, CO, USA.
Austin A LarsonSection of Clinical Genetics and Metabolism, Department of Pediatrics, University of Colorado, Aurora, CO, USA.
David M MirskyDepartment of Radiology, University of Colorado, and Children's Hospital Colorado, Aurora, CO, USA.
Yue WangDepartment of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.
Ting ChenDepartment of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA; Department of Endocrinology, Genetics and Metabolism, Children's Hospital of Soochow University, Suzhou, China.
Lee-Jun WongDepartment of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.
Marisa W FriederichSection of Clinical Genetics and Metabolism, Department of Pediatrics, University of Colorado, Aurora, CO, USA; Department of Pathology and Laboratory Medicine, Children's Hospital Colorado, 13121 East 16th Avenue, Aurora, CO, USA.
Johan L K Van HoveSection of Clinical Genetics and Metabolism, Department of Pediatrics, University of Colorado, Aurora, CO, USA; Department of Pathology and Laboratory Medicine, Children's Hospital Colorado, 13121 East 16th Avenue, Aurora, CO, USA. Electronic address: Johan.Vanhove@childrenscolorado.org.
Baylor College of Medicine · USChildren's Hospital Colorado · USUniversity of Colorado Anschutz Medical Campus · US

Funding

The North American Mitochondrial Disease Consortium (NAMDC)U54NS078059 · NINDS · COLUMBIA UNIVERSITY HEALTH SCIENCES · PI HIRANO, MICHIO · 2011 to 2023
$17.5M
NINDS NIH HHS U54 NS078059
6 · The paper itself

Abstract

Diagnosing complex V deficiencies caused by new variants in mitochondrial DNA is challenging due to the rarity, phenotypic diversity, and limited functional assessments. We describe a child with the m.9032T > C variant in MT-ATP6 encoding p.(Leu169Pro), with primary presentation of microcephaly, ataxia, hearing loss, and lactic acidosis. Functional studies reveal abnormal fragment F

Indexed as

Polymorphism, Single NucleotideAmino Acid SubstitutionBrainChildHigh-Throughput Nucleotide SequencingHumansMaleMitochondrial DiseasesMitochondrial Proton-Translocating ATPasesSequence Analysis, DNAMitochondrial Proton-Translocating ATPasesMT-ATP6 protein, humanBlue native PAGEComplex VMT-ATP6PhenotypeRespirometry

Identifiers

PMID32931937
PMCPMC7669648
OpenAlexW3086409060

What OpenQuestion holds

Textmetadata
LicenceTDM
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.