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mitochondrial complex I deficiency, nuclear type 29 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

mitochondrial complex I deficiency, nuclear type 29

MONDO:0032633

Also known as:MC1DN29

Overview

GeneticsAutosomal recessive · TMEM126B (chr 11)

ResearchLimited published research (2 articles)

Clinical Presentation

Built from Human Phenotype Ontology (HPO) phenotype annotations and GeneReviews clinical descriptions. Features represent findings documented across known cases — not an exhaustive list of possible symptoms.

Features include always present findings: Increased muscle fatiguability, Mitochondrial swelling, Exercise intolerance, and Hyperalaninemia and others; and common findings: Elevated lactate:pyruvate ratio, Lacticaciduria, Palpitations, and Proximal muscle weakness and others. 22 total HPO annotations.

Organ System	Phenotype Count	Example Features
Muscles	5	Increased muscle fatiguability, Muscle weakness, Proximal muscle weakness

Genetic Landscape

TMEM126B function has not been fully characterized.

Mitochondrial complex I deficiency, nuclear type 29 is associated with mutations in the TMEM126B gene on chromosome 11.

Diagnosis

Genetic testing for TMEM126B is available. Testing is considered confirmatory for diagnosis.

Prognosis

Phenotype severity distribution: 7 always present features, 8 common features.

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 29.

2 publications have been identified in PubMed for mitochondrial complex I deficiency, nuclear type 29. Research spans Basic Science / Preclinical (100%).

Recent Publications

de la Calle Arregui C (2025). [PMID: 41427350](https://pubmed.ncbi.nlm.nih.gov/41427350/). *bioRxiv*. [Basic Science / Preclinical]
Rouzier C (2024). [PMID: 38703036](https://pubmed.ncbi.nlm.nih.gov/38703036/). *Ann Clin Transl Neurol*. [Basic Science / Preclinical]

Data assembled from 5 of 12 sources · Last updated Sep 20, 2026, 4:48 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:618250

GARD

Genetic and Rare Diseases Info Center

GARD:16330

Questions for Your Care Team

→Should my partner and I meet with a genetic counselor to discuss carrier status and family planning?
→Are there specialists or centers of excellence for this condition in my area?
→Is there a patient registry I should consider joining?

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mitochondrial complex I deficiency, nuclear type 29

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

GARD

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Questions for Your Care Team

Questions for Your Care Team

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