mitochondrial myopathy with reversible cytochrome C oxidase deficiency
MONDO:0010780Mondo
Findings
No curated finding names mitochondrial myopathy with reversible cytochrome C oxidase deficiency yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Mitochondrial inheritance
HPO, annotations 2026-09-02
Features
25 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Feeding difficultiesHPOHP:0011968
- 16 of 17 reported patients
- Cytochrome C oxidase-negative muscle fibersHPOHP:0003688
- Very frequent (80% to 99% of cases)
- Generalized hypotoniaHPOHP:0001290
- Very frequent (80% to 99% of cases)
- Increased muscle glycogen contentHPOHP:0009051
- 7 of 15 reported patients
- Very frequent (80% to 99% of cases)
- Increased muscle lipid contentHPOHP:0009058
- 12 of 16 reported patients
- Very frequent (80% to 99% of cases)
- Muscle weaknessHPOHP:0001324
- Very frequent (80% to 99% of cases)
- MyopathyHPOHP:0003198
- Very frequent (80% to 99% of cases)
- Ragged-red muscle fibersHPOHP:0003200
- Very frequent (80% to 99% of cases)
- Decreased activity of mitochondrial complex IHPOHP:0011923
- Frequent (30% to 79% of cases)
- HyporeflexiaHPOHP:0001265
- Frequent (30% to 79% of cases)
- Mildly elevated creatine kinaseHPOHP:0008180
- Frequent (30% to 79% of cases)
- Respiratory distressHPOHP:0002098
- Frequent (30% to 79% of cases)
Show the remaining 13
- Severe lactic acidosisHPOHP:0004900
- Frequent (30% to 79% of cases)
- Abnormality of the cardiovascular systemHPOHP:0001626
- Occasional (5% to 29% of cases)
- Abnormality of the liverHPOHP:0001392
- Occasional (5% to 29% of cases)
- Abnormality of the nervous systemHPOHP:0000707
- Occasional (5% to 29% of cases)
- Decreased circulating carnitine concentrationHPOHP:0003234
- Occasional (5% to 29% of cases)
- HepatomegalyHPOHP:0002240
- Occasional (5% to 29% of cases)
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- TRMUHGNC:25481
- Supportive · Orphanet · Mitochondrial · 2021
Where it sits
- A kind of
Other names
6 names
Resolves to: mitochondrial myopathy with reversible cytochrome C oxidase deficiency
- Also called
- benign COX deficiencyinfantile reversible cytochrome C oxidase deficiency myopathymitochondrial myopathy with reversible complex IV deficiencymitochondrial myopathy with reversible COX deficiencyreversible infantile cytochrome C oxidase deficiencyreversible infantile respiratory chain deficiency