mitochondrial complex IV deficiency nuclear type 16

Term ID

DOID:0070501

Synonyms

• MC4DN16

Definition

A COX deficiency, benign infantile mitochondrial myopathy that has_material_basis_in homozygous mutation in the COX4I1 gene on chromosome 16q24.1. https://pubmed.ncbi.nlm.nih.gov/31290619/

References

• OMIM:619060
• UMLS_CUI:C5436714

Ontology

Human Disease   ( DOID:0070501 )