| Term Name: | mitochondrial complex IV deficiency nuclear type 7 |
|---|---|
| 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. |
| Ontology: | Human Disease [DOID:0070494] ( DOID:0070494 ) |