mitochondrial complex IV deficiency nuclear type 14

Term ID

DOID:0070499

Synonyms

• MC4DN14

Definition

A COX deficiency, benign infantile mitochondrial myopathy that has_material_basis_in compound heterozygous mutation in the COA3 gene on chromosome 17q21.2. https://pubmed.ncbi.nlm.nih.gov/25604084/

References

• OMIM:619058
• UMLS_CUI:C5436710

Ontology

Human Disease   ( DOID:0070499 )