mitochondrial complex IV deficiency nuclear type 17

Term ID

DOID:0070502

Synonyms

• MC4DN17

Definition

A COX deficiency, benign infantile mitochondrial myopathy that has_material_basis_in homozygous or compound heterozygous mutation in the APOPT1 gene on chromosome 14q32.33. https://pubmed.ncbi.nlm.nih.gov/25175347/

References

• OMIM:619061
• UMLS_CUI:C5436718

Ontology

Human Disease   ( DOID:0070502 )