mitochondrial complex IV deficiency nuclear type 12

Term ID

DOID:0070498

Synonyms

MC4DN12

Definition

A COX deficiency, benign infantile mitochondrial myopathy that has_material_basis_in homozygous mutation in the PET100 gene on chromosome 19p13.2. https://pubmed.ncbi.nlm.nih.gov/24462369/

References

MIM:619055
UMLS_CUI:C5436695

Ontology

Human Disease ( DOID:0070498 )

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