Fontaine progeroid syndrome with neonatal mitochondrial disease.

Mitsuhiko Riko, Daiki Kawamoto, Kentaro Hirayama, Tomoya Tsuchihashi, Takayuki Suzuki, Takuya Sugimoto, Yasushi Okazaki, Kei Murayama, Daisuke Tokuhara

Abstract read

PubMed Full text at PMC Publisher

In one paragraph

Article in Human genome variation, 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.

From the cytosol to the inner membrane: biogenesis of the mitochondrial carrier family.Protein science : a publication of the Protein Society · 2026
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

9 authors.

Mitsuhiko RikoDepartment of Pediatrics, Wakayama Medical University, Wakayama, Japan. mricoh@wakayama-med.ac.jp.

Daiki KawamotoDepartment of Pediatrics, Wakayama Medical University, Wakayama, Japan.

Kentaro HirayamaDepartment of Pediatrics, Wakayama Medical University, Wakayama, Japan.

Tomoya TsuchihashiDepartment of Pediatrics, Wakayama Medical University, Wakayama, Japan.

Takayuki SuzukiDepartment of Pediatrics, Wakayama Medical University, Wakayama, Japan.

Takuya SugimotoDepartment of Pediatrics, Wakayama Medical University, Wakayama, Japan.

Yasushi OkazakiDiagnostics and Therapeutics of Intractable Diseases, Intractable Disease Research Center, Graduate School of Medicine, Juntendo University, Bunkyo, Tokyo, Japan.ORCID http://orcid.org/0000-0003-3241-5502

Kei MurayamaDiagnostics and Therapeutics of Intractable Diseases, Intractable Disease Research Center, Graduate School of Medicine, Juntendo University, Bunkyo, Tokyo, Japan.ORCID http://orcid.org/0000-0002-3923-8636

Daisuke TokuharaDepartment of Pediatrics, Wakayama Medical University, Wakayama, Japan.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Fontaine progeroid syndrome (FPS) is a rare condition characterized by abnormalities in SLC25A24. Some instances of FPS have been reported to be fatal early in life. Here we present the first case of mitochondrial disease diagnosed with FPS in Japan. The diagnosis was based on the presence of the heterozygous known pathogenic variant of SLC25A24, NM_013386.5: c.649C>T and decreased activity of mitochondrial respiratory chain enzyme activity.

Identifiers

PMID41271664

DOI10.1038/s41439-025-00331-1

PMCPMC12639141

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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.