Evidence map›Paper›PMID 42232680›Full record

ArticleMolecular syndromology2026

Two Siblings with

Merve Setenay Akyüzlüer Güneş, Duygu Duman, Emine Kübra Şen, Miraç Yıldırım, Elif Özsu, Ömer Erdeve, Seda Kaynak Şahap, Fatma Tuba Eminoğlu, Engin Köse

Abstract readCase Reports
PubMed Full text at PMC Publisher
In one paragraph

Article in Molecular syndromology, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

0numbers the graph read from it
0cells of the map it votes in
0citing 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

0 citing papers in PubMed.

No citing paper in PubMed yet.

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.

Merve Setenay Akyüzlüer GüneşDepartment of Pediatric Metabolism, Ankara University Faculty of Medicine, Ankara, Türkiye.
Duygu DumanAnkara University Rare Diseases Application and Research Center, Ankara, Türkiye.
Emine Kübra ŞenDepartment of Pediatric Endocrinology, Ankara University Faculty of Medicine, Ankara, Türkiye.
Miraç YıldırımDepartment of Pediatric Neurology, Ankara University Faculty of Medicine, Ankara, Türkiye.
Elif ÖzsuDepartment of Pediatric Endocrinology, Ankara University Faculty of Medicine, Ankara, Türkiye.
Ömer ErdeveDepartment of Neonatology, Ankara University Faculty of Medicine, Ankara, Türkiye.
Seda Kaynak ŞahapDepartment of Pediatric Radiology, Ankara University Faculty of Medicine, Ankara, Türkiye.
Fatma Tuba EminoğluDepartment of Pediatric Metabolism, Ankara University Faculty of Medicine, Ankara, Türkiye.
Engin KöseDepartment of Pediatric Metabolism, Ankara University Faculty of Medicine, Ankara, Türkiye.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Introduction: Mitochondrial diseases caused by mutations in the Case Presentation: The younger sibling, a 9-year-old girl, presented with severe growth retardation, global developmental delay, hypotonia, spastic ataxic gait, and lactic acidosis. Magnetic resonance imaging showed symmetrical hyperintensities in the mesencephalon and thalami, cerebellar atrophy, and an inverted lactate peak on spectroscopy. Hypertrophic cardiomyopathy was also detected. The older sibling, aged 13, exhibited milder manifestations, including axial hypotonia, tremor, ataxia, and persistent hyperlactatemia. Both siblings had elevated lactate levels but otherwise normal metabolic panels. Whole exome sequencing revealed a homozygous mutation in the Conclusions: These cases highlight the clinical variability of

Indexed as

AtaxiaFrench-Canadian Leigh syndromeLRPPRCMitochondrial complex IV deficiency

Identifiers

PMID42232680
PMCPMC13225821

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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.