mitochondrial complex IV deficiency nuclear type 10

Term ID

DOID:0070496

Synonyms

• MC4DN10

Definition

A COX deficiency, benign infantile mitochondrial myopathy that has_material_basis_in homozygous mutation in the COX14 gene on chromosome 12q13.12. https://pubmed.ncbi.nlm.nih.gov/22243966/

References

• OMIM:619053
• UMLS_CUI:C5436692

Ontology

Human Disease   ( DOID:0070496 )