Evidence map›Paper›PMID 42724182›Full record

ArticleTranslational pediatrics2026

Clinical and modifier gene profiles in reversible infantile respiratory chain deficiency: three Chinese cases report and literature review.

Tongyue Li, Chaolong Xu, Zhimei Liu, Yang Liu, Ying Zou, Zimeng He, Yunxi Zhang, Mingxi Sun, Hong Xue, Hua Li and 1 more

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PubMed Full text at PMC Publisher
In one paragraph

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

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1 · What the graph read from it

What it found

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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

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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

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5 · Who and what money

Authors and funding

11 authors.

Tongyue LiDepartment of Neurology, National Center for Children's Health, Beijing Children's Hospital, Capital Medical University, Beijing, China.ORCID https://orcid.org/0000-0001-5367-6811
Chaolong XuDepartment of Neurology, National Center for Children's Health, Beijing Children's Hospital, Capital Medical University, Beijing, China.
Zhimei LiuDepartment of Neurology, National Center for Children's Health, Beijing Children's Hospital, Capital Medical University, Beijing, China.
Yang LiuDepartment of Neurology, National Center for Children's Health, Beijing Children's Hospital, Capital Medical University, Beijing, China.
Ying ZouDepartment of Neurology, National Center for Children's Health, Beijing Children's Hospital, Capital Medical University, Beijing, China.
Zimeng HeDepartment of Neurology, National Center for Children's Health, Beijing Children's Hospital, Capital Medical University, Beijing, China.
Yunxi ZhangDepartment of Neurology, National Center for Children's Health, Beijing Children's Hospital, Capital Medical University, Beijing, China.
Mingxi SunDepartment of Neurology, National Center for Children's Health, Beijing Children's Hospital, Capital Medical University, Beijing, China.
Hong XueDepartment of Neurology, National Center for Children's Health, Beijing Children's Hospital, Capital Medical University, Beijing, China.
Hua LiDepartment of Neurology, National Center for Children's Health, Beijing Children's Hospital, Capital Medical University, Beijing, China.
Fang FangDepartment of Neurology, National Center for Children's Health, Beijing Children's Hospital, Capital Medical University, Beijing, China.ORCID https://orcid.org/0000-0001-6362-7896

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Background: Reversible infantile respiratory chain deficiency (RIRCD) is a rare mitochondrial myopathy caused by homoplasmic MT‑TE m.14674T>C/G variants, characterized by severe infantile onset followed by spontaneous recovery. Nuclear modifiers are thought to modulate its incomplete penetrance, but evidence for digenic inheritance remains limited. We aim to analyze the clinical, genetic, and prognostic features of RIRCD, explore the roles of nuclear modifiers and digenic inheritance. Case Description: We report three Chinese RIRCD patients carrying the homoplasmic m.14674T>C variant. All presented with recurrent respiratory infections and feeding difficulties, with gradual developmental recovery after 1 year of age. Notably, we report a case of a homoplasmic m.14674T>C variant (maternal) and a pathogenic Conclusions: RIRCD is a rare mitochondrial myopathy caused by mitochondrial DNA (mtDNA) variants with penetrance regulated by nuclear modifiers. Digenic inheritance contributes to phenotypic heterogeneity, supporting precise diagnosis and future therapy.

Indexed as

case reportdigenic inheritanceMitochondrial diseasemitochondrial myopathyreversible infantile respiratory chain deficiency (RIRCD)

Identifiers

PMID42724182
PMCPMC13559098

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