Term Name: | mitochondrial complex IV deficiency nuclear type 16 |
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Synonyms: | MC4DN16 |
Definition: | A COX deficiency, benign infantile mitochondrial myopathy that has_material_basis_in homozygous mutation in the COX4I1 gene on chromosome 16q24.1. |
Ontology: | Human Disease [DOID:0070501] ( DOID:0070501 ) |