[Cytochrome C oxidase deficiency].
Cytochrome c oxydase deficiency, i.e. a mitochondrial myopathy was diagnosed in a patient suffering from generalized muscle hypotonia. The fatal case presented underlines the importance that within the clinical pattern of myopathies the distinct entities should be differentiated.
Adamovich
K
K
Pécsi Orvostudományi Egyetem Gyermekklinika és Biokémiai Intézet.
Melegh
B
B
Sümegi
B
B
D000328:Adult; D030401:Cytochrome-c Oxidase Deficiency; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D008931:Mitochondria, Muscle / Q000201:enzymology* / Q000473:pathology / Q000648:ultrastructure; D009135:Muscular Diseases / Q000151:congenital / Q000201:enzymology* / Q000473:pathology; D011225:Pre-Eclampsia; D011247:Pregnancy
Cytochrom c oxidáz hiány.