Term Name: | mitochondrial complex IV deficiency nuclear type 12 |
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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 ) |