mitochondrial complex IV deficiency nuclear type 13

Term ID

DOID:0080360

Synonyms

• fatal infantile cardioencephalomyopathy due to cytochrome c oxidase deficiency 4
• MC4DN13

Definition

A COX deficiency, infantile mitochondrial myopathy that has_material_basis_in homozygous or compound heterozygous mutation in the COA6 gene on chromosome 1q42. https://pubmed.ncbi.nlm.nih.gov/25339201/

References

• OMIM:616501
• UMLS_CUI:C4225304

Ontology

Human Disease   ( DOID:0080360 )