mitochondrial complex IV deficiency nuclear type 20

Term ID

DOID:0070505

Synonyms

MC4DN20

Definition

A COX deficiency, benign infantile mitochondrial myopathy that has_material_basis_in homozygous mutation in the COX5A gene on chromosome 15q24.2. https://pubmed.ncbi.nlm.nih.gov/28247525/

References

MIM:619064
UMLS_CUI:C5436726

Ontology

Human Disease ( DOID:0070505 )

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