Term Name: | mitochondrial complex IV deficiency nuclear type 21 |
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Synonyms: | MC4DN21 |
Definition: | A COX deficiency, benign infantile mitochondrial myopathy that has_material_basis_in homozygous mutation in the NDUFA4 gene on chromosome 7p21.3. |
Ontology: | Human Disease [DOID:0070506] ( DOID:0070506 ) |