Evidence map›Paper›PMID 40770229›Full record

ArticleJournal of human genetics2025

A novel m.14677 T > C variant in mitochondrial tRNA

Nahoko Katayama Ueda, Masakazu Mimaki, Shota Ito, Ayuka Murakami, Satoshi Yokoi, Ichizo Nishino, Masahisa Katsuno, Yu-Ichi Goto

Abstract readCase Reports
In one paragraph

Article in Journal of human genetics, 2025. 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
–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

1 citing paper in PubMed.

  1. Mitochondrial tRNA-Derived Diseases.International journal of molecular sciences · 2025
    Review
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

8 authors.

Nahoko Katayama UedaMedical Genome Center, National Institute of Neuroscience, National Center of Neurology and Psychiatry, Tokyo, Japan.ORCID http://orcid.org/0009-0007-8911-984X
Masakazu MimakiMedical Genome Center, National Institute of Neuroscience, National Center of Neurology and Psychiatry, Tokyo, Japan. mimaki@med.teikyo-u.ac.jp.ORCID http://orcid.org/0000-0001-8155-2496
Shota ItoDepartment of Neurology, Nagoya University Graduate School of Medicine, Aichi, Japan.
Ayuka MurakamiDepartment of Neurology, Nagoya University Graduate School of Medicine, Aichi, Japan.
Satoshi YokoiDepartment of Pathophysiological Laboratory Sciences, Nagoya University Graduate School of Medicine, Aichi, Japan.
Ichizo NishinoMedical Genome Center, National Institute of Neuroscience, National Center of Neurology and Psychiatry, Tokyo, Japan.ORCID http://orcid.org/0000-0001-9452-112X
Masahisa KatsunoDepartment of Neurology, Nagoya University Graduate School of Medicine, Aichi, Japan.
Yu-Ichi GotoMedical Genome Center, National Institute of Neuroscience, National Center of Neurology and Psychiatry, Tokyo, Japan.ORCID http://orcid.org/0000-0002-2426-9739

Funding

Ministry of Health, Labour and Welfare (Ministry of Health, Labour and Welfare, Japan) 23FC1034National Center of Neurology and Psychiatry (NCNP) Intramural Research Grant (5-6) for Neurological and Psychiatric Disorders
6 · The paper itself

Abstract

Chronic progressive external ophthalmoplegia (CPEO) is a mitochondrial disease characterized by progressive ptosis and ophthalmoplegia, caused by single deletions, point mutations, or multiple deletions in mitochondrial DNA (mtDNA). Most point mutations occur in tRNA genes. Here, we report a novel variant of the tRNA

Indexed as

Ophthalmoplegia, Chronic Progressive ExternalDNA, MitochondrialHumansMaleMiddle AgedMutationDNA, Mitochondrial

Identifiers

PMID40770229
PMCPMC12460166

What OpenQuestion holds

Textmetadata
LicenceCC BY
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.