mitochondrial complex IV deficiency nuclear type 9

Term ID

DOID:0080359

Synonyms

• fatal infantile cardioencephalomyopathy due to cytochrome c oxidase deficiency 3
• MC4DN9

Definition

A COX deficiency, infantile mitochondrial myopathy that has_material_basis_in homozygous mutation in the COA5 gene on chromosome 2q11. https://pubmed.ncbi.nlm.nih.gov/12928484/

References

• OMIM:616500
• UMLS_CUI:C4225154

Ontology

Human Disease   ( DOID:0080359 )