mitochondrial complex IV deficiency nuclear type 1

Term ID

DOID:0070491

Synonyms

• MC4DN1

Definition

A COX deficiency, benign infantile mitochondrial myopathy that has_material_basis_in homozygous or compound heterozygous mutation in the SURF1 gene on chromosome 9q34.2. https://pubmed.ncbi.nlm.nih.gov/10746561/

References

• MIM:220110
• NCI:C176895
• UMLS_CUI:C5435656

Ontology

Human Disease   ( DOID:0070491 )