Kisho

Kisho is an information platform, not a medical provider. Nothing on this site constitutes medical advice, diagnosis, or treatment recommendations. All content is aggregated from publicly available sources (including ClinicalTrials.gov, PubMed, FDA.gov, and Orphanet) and is provided for informational purposes only. Clinical trial eligibility, treatment decisions, and any health-related actions should always be discussed with a qualified healthcare professional. Kisho does not endorse any specific therapy, organization, or clinical trial. Terms of use · Privacy policy

mitochondrial myopathy with reversible cytochrome C oxidase deficiency - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

mitochondrial myopathy with reversible cytochrome C oxidase deficiency

MONDO:0010780

Also known as:benign COX deficiencyinfantile reversible cytochrome C oxidase deficiency myopathymitochondrial myopathy with reversible COX deficiency

Overview

GeneticsMitochondrial (maternal)

ResearchLimited published research (1 article)

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: Cytochrome C oxidase-negative muscle fibers; and very common findings: Feeding difficulties. 23 total HPO annotations.

Organ System	Phenotype Count	Example Features
Muscles	11	Generalized hypotonia, Hypertrophied muscle fibers, Muscle weakness

Prognosis

Phenotype severity distribution: 1 always present feature, 1 very common feature, 3 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 myopathy with reversible cytochrome C oxidase deficiency.

1 publication has been identified in PubMed for mitochondrial myopathy with reversible cytochrome C oxidase deficiency. Research spans Case Report / Case Series (100%).

Recent Publications

Ma YT (2025). [PMID: 40008317](https://pubmed.ncbi.nlm.nih.gov/40008317/). *Case Rep Med*. [Case Report / Case Series]

Data assembled from 5 of 12 sources · Last updated Sep 20, 2026, 6:11 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:500009

Orphanet

European rare disease database

Orphanet:254864

GARD

Genetic and Rare Diseases Info Center

GARD:17227

Questions for Your Care Team

→Are there specialists or centers of excellence for this condition in my area?
→Is there a patient registry I should consider joining?

← Back to All Diseases

mitochondrial myopathy with reversible cytochrome C oxidase deficiency

Overview

Clinical Presentation

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features