mitochondrial complex IV deficiency nuclear type 21

Term ID

DOID:0070506

Synonyms

• MC4DN21

Definition

A COX deficiency, benign infantile mitochondrial myopathy that has_material_basis_in homozygous mutation in the NDUFA4 gene on chromosome 7p21.3. https://pubmed.ncbi.nlm.nih.gov/23746447/

References

• OMIM:619065
• UMLS_CUI:C5436727

Ontology

Human Disease   ( DOID:0070506 )