ORPHA:254864
Mitochondrial myopathy with reversible cytochrome C oxidase deficiency
Also known as: Benign COX deficiency · Infantile reversible cytochrome C oxidase deficiency myopathy · Mitochondrial myopathy with reversible COX deficiency · Mitochondrial myopathy with reversible complex IV deficiency · Reversible infantile cytochrome C oxidase deficiency · Reversible infantile respiratory chain deficiency
Query health: suspect — Only one of 2 strategies returned hits (phrase).
Publications
49
44.5th percentile
Trials
0
Interventional, condition-specific
Researchers
349
Distinct authors in sample
Gene link
—
Readiness
1/6
Stages with a signal
Clinical definition (Orphanet)
A rare, genetic, oxidative phosphorylation disorder characterized by a potentially life-threatening, severe manifesting in the to early period, followed by marked, spontaneous improvement of muscular function by early childhood. Associated biochemical findings include lactic and a transient, marked decrease in respiratory chain activity.
Cross-references
Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.
- MONDO:0010780
- OMIM:500009
- UMLS:C3151898
Additional Mondo synonyms (6)
benign COX deficiency · infantile reversible cytochrome C oxidase deficiency myopathy · mitochondrial myopathy with reversible COX deficiency · mitochondrial myopathy with reversible complex IV deficiency · reversible infantile cytochrome C oxidase deficiency · reversible infantile respiratory chain deficiency
Research stages
Trial readiness signals
Where this condition sits on an open-data research pipeline — not how close a treatment is, and not medical advice. Empty stages often mean “not in these databases under this Mondo ID,” not “impossible.”
1/6 stages with a signal
Research-stage checklist from open sources (GenCC, literature, Monarch when enriched, ClinicalTrials.gov). Not a prognosis or care recommendation.
- Gene identifiedNot found
No GenCC disease–gene assertion in this build
- LiteraturePresent
49 matched papers (31 in last 10 years) Source
- Phenotype characterisedNot checked
Not yet enriched from Monarch / HPO
- Animal modelNot checked
Not yet enriched from Monarch / Alliance
- Orphan designationNot checked
FDA/EMA orphan-drug designation not enriched yet
- Interventional trialNot found
No matched interventional trial under our ClinicalTrials.gov rules
Biology
Genes and phenotypes
Gene–disease validity from GenCC, plus phenotypes and animal models joined from Monarch Initiative via Mondo ID — not a clinical diagnosis aid.
Do we know what causes it?
Not yet — the cause hasn't been pinned down in GenCC.
No strong gene–disease assertion joined for this Orphanet entity.
Phenotypes (Monarch / HPO)
Not enriched in this build — Monarch phenotype joins were not run for this record.
Animal models (Monarch / Alliance)
Not enriched in this build.
Literature
Is anyone studying this?
49
49 papers have ever been published on this condition (under this name). For scale, breast cancer has over 700,000. Median papers in the last 10 years for a rare disease in this dataset (publications denominator n=5449) is 41.
49 papers since the earliest indexed year in this search — median last-10-year count for a rare disease in this dataset is 41 (publications denominator n=5449).
31 in the last 10 years · high confidence · 44.5th percentile (publications denominator)
Phrase hits: 49 · MeSH hits: 0
Who's working on it?
349
Distinct author names in 49 sampled papers — named people below.
Who's working on it?
No interventional trial matched this name; these authors publish on it in the sampled literature — a practical starting point for contact.
- 01Horvath R11 papers · 2026
Wellcome Centre for Mitochondrial Research, Institute of Genetic Medicine, Newcastle University, Central Parkway, Newcastle upon Tyne NE1 3BZ, U.K. rita.horvath@ncl.ac.uk.
Papers in Europe PMC - 02Boczonadi V7 papers · 2020
Wellcome Centre for Mitochondrial Research, Institute of Genetic Medicine, Newcastle University, Central Parkway, Newcastle upon Tyne NE1 3BZ, U.K.
Papers in Europe PMC - 03Tulinius M5 papers · 2020
Department of Paediatrics, The Sahlgrenska Academy, University of Gothenburg, Box 400, Göteborg SE-405 30, Sweden.
Papers in Europe PMC - 04Chinnery PF4 papers · 2020
Department of Clinical Neurosciences, School of Clinical Medicine, University of Cambridge, Cambridge, UK.
Papers in Europe PMC - 05Gomez-Duran A4 papers · 2020
Wellcome Trust Mitochondrial Research Centre and the John Walton Muscular Dystrophy Research Centre, Institute of Genetic Medicine, Newcastle University, Central Parkway, Newcastle upon Tyne, UK.
Papers in Europe PMC - 06Minczuk M4 papers · 2020
Mitochondrial Genetics, Mitochondrial Biology Unit, Medical Research Council, Cambridge, UK.
Papers in Europe PMC - 07Poulton J4 papers · 2022
Nuffield Department of Women's and Reproductive Health, University of Oxford, Oxford, United Kingdom.
Papers in Europe PMC - 08Pyle A4 papers · 2020
Wellcome Centre for Mitochondrial Research, Translational and Clinical Research Institute, Newcastle University, Newcastle upon Tyne, UK.
Papers in Europe PMC - 09Schara U4 papers · 2020
Department of Paediatric Neurology, University of Essen, Hufelandstraße 55, Essen 45122, Germany.
Papers in Europe PMC - 10Cotta A3 papers · 2021
Department of Pathology, Neuromuscular Unit, SARAH Network of Rehabilitation Hospitals, Belo Horizonte, Brazil.
Papers in Europe PMC
Clinical research
Is a treatment being tested?
0
interventional trials for this specific condition
No interventional trial testing a treatment matched this specific condition name on ClinicalTrials.gov (observational studies and pan-disease registries are listed separately when present).
Data as of 27 July 2026
No matched interventional trials. This is true for 73% of diseases in the trials denominator (5114 of 7003). Here are the researchers publishing on it.
high confidence · 36.5th percentile (trials denominator)
Recruiting interventional trials
From the matched ClinicalTrials.gov set
No interventional trial testing a treatment was found for this specific condition name on ClinicalTrials.gov.
See who's working on it — people publishing on this disease are often the practical next contact when no trial is listed.
Where to find support
We do not yet link condition-specific patient organisations. These umbrella groups support undiagnosed and ultra-rare families:
India — NPRD
Last verified 2026-07-26This ORPHAcode is not on our curated NPRD list (direct or Mondo-parent match). That does not decide clinical eligibility; families in India should ask a notified Centre of Excellence about current coverage.
Hand-curated for this project. ORPHAcode mappings are best-effort and may be incomplete or imprecise for umbrella categories. Parent (Mondo) matches mean the policy lists a broader category — confirm eligibility with a Centre of Excellence. Financial entitlements summarised from public policy statements and may change. This is not official government guidance.
How we counted this
Europe PMC query (preferred label + any corrected label + Orphanet and Mondo exact synonyms, stoplisted; unioned with resolved MeSH labels when available). UMLS / OMIM / NCIT cross-references are stored on the overview but are not added to the query string.
"Mitochondrial myopathy with reversible cytochrome C oxidase deficiency" OR "Benign COX deficiency" OR "Infantile reversible cytochrome C oxidase deficiency myopathy" OR "Mitochondrial myopathy with reversible COX deficiency" OR "Mitochondrial myopathy with reversible complex IV deficiency" OR "Reversible infantile cytochrome C oxidase deficiency" OR "Reversible infantile respiratory chain deficiency"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Mitochondrial myopathy with reversible cytochrome C oxidase deficiency" OR "Benign COX deficiency" OR "Infantile reversible cytochrome C oxidase deficiency myopathy" OR "Mitochondrial myopathy with reversible COX deficiency" OR "Mitochondrial myopathy with reversible complex IV deficiency" OR "Reversible infantile cytochrome C oxidase deficiency" OR "Reversible infantile respiratory chain deficiency" OR "inborn mitochondrial myopathy" OR "congenital structural myopathy" OR "inborn mitochondrial metabolism disorder"
Recall-expansion terms: inborn mitochondrial myopathy, congenital structural myopathy, inborn mitochondrial metabolism disorder
Study-type breakdown: 0 interventional · 0 observational · 0 expanded access. Only interventional studies enter the trial headline.
Query health: suspect — strategies attempted: phrase, recall-expansion; with hits: phrase
Run this search on ClinicalTrials.gov
Confidence reasoning
- Preferred label is multi-word and distinctive
- No synonyms dropped by stoplist
- No label/synonym collisions with other diseases in this corpus
Ingested 2026-07-27T11:07:35.867Z