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mitochondrial complex I deficiency, nuclear type - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

mitochondrial complex I deficiency, nuclear type

MONDO:0100223

Overview

Any mitochondrial complex I deficiency in which the cause of the disease is a mutation in the nuclear-encoded genes that encode structural subunits or assembly factors of complex I.

OnsetANTENATAL, CHILDHOOD, CONGENITAL, ADULT, INFANTILE, NEONATAL, JUVENILE

ResearchLimited published research (8 articles)

Research Landscape

Sourced from ClinicalTrials.gov and PubMed. Publication types are classified using NLM-curated article metadata; research type breakdowns reflect the nature of published work for this disease.

No clinical trials have been registered for mitochondrial complex I deficiency, nuclear type.

8 publications have been identified in PubMed for mitochondrial complex I deficiency, nuclear type. Research spans Case Report / Case Series (50%), Review / Meta-Analysis (25%), and Basic Science / Preclinical (25%).

Recent Publications

Yang Q (2026). [PMID: 41982415](https://pubmed.ncbi.nlm.nih.gov/41982415/). *Front Neurol*. [Case Report / Case Series]
Haddad S (2025). [PMID: 40207266](https://pubmed.ncbi.nlm.nih.gov/40207266/). *Oxford medical case reports*. [Case Report / Case Series]
Kalantari S (2025). [PMID: 39821332](https://pubmed.ncbi.nlm.nih.gov/39821332/). *American journal of medical genetics. Part A*. [Case Report / Case Series]
Kaiyrzhanov R (2025). [PMID: 39963288](https://pubmed.ncbi.nlm.nih.gov/39963288/). *Brain communications*. [Case Report / Case Series]
Bozdemir N (2025). [PMID: 40452557](https://pubmed.ncbi.nlm.nih.gov/40452557/). *Genesis*. [Review / Meta-Analysis]

Data assembled from 2 of 12 sources · Last updated Sep 18, 2026, 4:16 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

Questions for Your Care Team

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mitochondrial complex I deficiency, nuclear type

Overview

Research Landscape

Recent Publications

Medical References

Subtypes

Related Diseases

Questions for Your Care Team

Questions for Your Care Team