mitochondrial complex IV deficiency nuclear type 19

Term ID

DOID:0070504

Synonyms

MC4DN19

Definition

A COX deficiency, benign infantile mitochondrial myopathy that has_material_basis_in homozygous mutation in the PET117 gene on chromosome 20p11.23. https://pubmed.ncbi.nlm.nih.gov/28386624/

References

OMIM:619063
UMLS_CUI:C5436723

Ontology

Human Disease ( DOID:0070504 )

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