mitochondrial complex IV deficiency nuclear type 2

Term ID

DOID:0080357

Synonyms

• fatal infantile cardioencephalomyopathy due to cytochrome c oxidase deficiency 1
• MC4DN2

Definition

A COX deficiency, infantile mitochondrial myopathy that has_material_basis_in compound heterozygous mutation in the SCO2 gene on chromosome 22q13. https://pubmed.ncbi.nlm.nih.gov/10746561/

References

• MIM:604377
• UMLS_CUI:C5399977

Ontology

Human Disease   ( DOID:0080357 )