Rare diseases · Sign or symptom
Cytochrome C oxidase-negative muscle fibers
HP:0003688
What it means
An abnormally reduced activity of the enzyme cytochrome C oxidase in muscle tissue.
This abnormality can be assayed by muscle biopsy. Cytochrome C oxidase is an enzyme of the respiratory electron transport chain of mitochondria that is located in the mitochondrial membrane.
Rare diseases that can present with this4
The range is how often this sign appears among people diagnosed with each disease — it is not a probability of having any of them. Many of these signs also occur in common, non-rare conditions. A sign on this page is a conversation to have with a clinician, not a conclusion.
Part of the broader category
Also called: Cytochrome c oxidase deficiency in skeletal muscle · Cytochrome C oxidase-negative muscle fibres · Decreased activity of cytochrome C oxidase in muscle tissue · Decreased skeletal muscle cytochrome c oxidase activity
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Start free with EleplanThis page uses the Human Phenotype Ontology (2026-06-23) — Human Phenotype Ontology Consortium, hpo.jax.org. Disease associations from Orphanet (INSERM), CC BY 4.0. Content is educational and is not medical advice.