Evidence map›Paper›PMID 42871314›Full record

ArticleFrontiers in neuroscience2026

Clinical spectrum and genotype-phenotype correlations of

Zimeng He, Tongyue Li, Chaolong Xu, Yang Liu, Ying Zou, Zhimei Liu, Jiatong Xu, Xuejing Kang, Huafang Jiang, Danmin Shen and 3 more

Abstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Frontiers in neuroscience, 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

13 authors.

Zimeng He *Department of Neurology, Beijing Children's Hospital, National Center for Children's Health, Capital Medical University, Beijing, China.
Tongyue Li *Department of Neurology, Beijing Children's Hospital, National Center for Children's Health, Capital Medical University, Beijing, China.
Chaolong XuDepartment of Neurology, Beijing Children's Hospital, National Center for Children's Health, Capital Medical University, Beijing, China.
Yang LiuDepartment of Neurology, Beijing Children's Hospital, National Center for Children's Health, Capital Medical University, Beijing, China.
Ying ZouDepartment of Neurology, Beijing Children's Hospital, National Center for Children's Health, Capital Medical University, Beijing, China.
Zhimei LiuDepartment of Neurology, Beijing Children's Hospital, National Center for Children's Health, Capital Medical University, Beijing, China.
Jiatong XuDepartment of Pathology, Beijing Children's Hospital, National Center for Children's Health, Capital Medical University, Beijing, China.
Xuejing KangDepartment of Pathology, Beijing Children's Hospital, National Center for Children's Health, Capital Medical University, Beijing, China.
Huafang JiangDepartment of Pediatrics, Weifang Maternal and Child Health Hospital, Weifang, Shandong, China.
Danmin ShenDepartment of Neurology, Beijing Children's Hospital, National Center for Children's Health, Capital Medical University, Beijing, China.
Yunxi ZhangDepartment of Neurology, Beijing Children's Hospital, National Center for Children's Health, Capital Medical University, Beijing, China.
Hui XiongDepartment of Neurology, Beijing Children's Hospital, National Center for Children's Health, Capital Medical University, Beijing, China.
Fang FangDepartment of Neurology, Beijing Children's Hospital, National Center for Children's Health, Capital Medical University, Beijing, China.

Funding

Wellcome Trust
6 · The paper itself

Abstract

Aim: To characterize the clinical and molecular features associated with the Methods: We performed comprehensive clinical, metabolic, histopathological, genetic, and mitochondrial functional analyses in a patient carrying the m.15045G > A variant. A systematic literature review of previously reported disease-associated Results: The patient presented with exercise intolerance, borderline intellectual functioning, and elevated medium and long-chain acylcarnitines. Muscle biopsy showed mitochondrial myopathic changes, and respiratory chain analysis demonstrated isolated complex III (CIII) deficiency. The m.15045G > A variant showed tissue-specific heteroplasmy of 22.5, 70.5, and 95.5% in blood, urine, and muscle, respectively, providing further evidence for its pathogenicity. Among 34 patients with disease-associated Conclusion: Our findings provide further evidence for the pathogenicity of m.15045G > A and broaden its associated clinical and metabolic features. Tissue-specific distribution of

Indexed as

complex III (cytochrome bc1 complex)genotype–phenotype correlationm.15045G > Amitochondrial diseasemitochondrial myopathyMT-CYB gene

Identifiers

PMID42871314
PMCPMC13658607

What OpenQuestion holds

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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.