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 COA8 gene on chromosome 14q32.33. https://pubmed.ncbi.nlm.nih.gov/25175347/

References

MIM:619061
UMLS_CUI:C5436718

Ontology

Human Disease ( DOID:0070502 )

Relationships

is a type of: autosomal recessive disease COX deficiency, benign infantile mitochondrial myopathy

autosomal recessive disease COX deficiency, benign infantile mitochondrial myopathy Show first 5 Terms

Other Pages

Alliance (1)

Genes Involved

Zebrafish Models