| Term Name: | mitochondrial complex IV deficiency nuclear type 12 |
|---|---|
| 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. |
| Ontology: | Human Disease [DOID:0070498] ( DOID:0070498 ) |