Term Name: | mitochondrial complex IV deficiency nuclear type 19 |
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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 ) |