mitochondrial complex IV deficiency nuclear type 7

Term ID

DOID:0070494

Synonyms

MC4DN7

Definition

A COX deficiency, benign infantile mitochondrial myopathy that has_material_basis_in homozygous mutation in the COX6B1 gene on chromosome 19q13.12. (2)

References

OMIM:619051
UMLS_CUI:C5436685

Ontology

Human Disease ( DOID:0070494 )

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

Citations