| Term Name: | mitochondrial complex IV deficiency nuclear type 19 |
|---|---|
| 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. |
| Ontology: | Human Disease [DOID:0070504] ( DOID:0070504 ) |