mitochondrial complex IV deficiency nuclear type 4

Term ID

DOID:0070493

Synonyms

MC4DN4

Definition

A COX deficiency, benign infantile mitochondrial myopathy that has_material_basis_in homozygous or compound heterozygous mutation in the SCO1 gene on chromosome 17p13.1. (2)

References

OMIM:619048
UMLS_CUI:C5436683

Ontology

Human Disease ( DOID:0070493 )

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