mitochondrial complex IV deficiency nuclear type 17 (DOID:0070502)
Alliance: disease page
Synonyms: MC4DN17
Alt IDs: OMIM:619061, UMLS_CUI:C5436718
Definition: A COX deficiency, benign infantile mitochondrial myopathy that has_material_basis_in homozygous or compound heterozygous mutation in the APOPT1 gene on chromosome 14q32.33.