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Article

Association between de novo variants of nuclear-encoded mitochondrial-related genes and undiagnosed developmental disorder and autism.

QJM : monthly journal of the Association of Physicians - 12 Apr 2024

Luo T, Pan J, Zhu Y, Wang X, Li K, Zhao G, Li B, Hu Z, Xia K, Li J

Abstract excerpt

BACKGROUND: Evidence suggests that mitochondrial abnormalities increase the risk of two neurodevelopmental disorders: undiagnosed developmental disorder (UDD) and autism spectrum disorder (ASD). However, which nuclear-encoded mitochondrial-related genes (NEMGs) were associated with UDD-ASD is unclear. AIM: To explore the association between de novo variants (DNVs) of NEMGs and UDD-ASD. DESIGN: Comprehensive...

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Source

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Identifiers

PMID: 37930872
DOI: 10.1093/qjmed/hcad249
PMCID: PMC11014680

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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