[Cytochrome c oxidase deficiency. Examples of its clinical heterogeneity].
Laverda
A M
AM
Dipartimento di Pediatria, Università degli Studi di Padova.
Battistella
P A
PA
Casara
G L
GL
Drigo
P
P
D001706:Biopsy; D002648:Child; D030401:Cytochrome-c Oxidase Deficiency; D003576:Electron Transport Complex IV / Q000032:analysis; D004831:Epilepsies, Myoclonic / Q000175:diagnosis* / Q000209:etiology / Q000473:pathology; D005260:Female; D006801:Humans; D007223:Infant; D008297:Male; D009132:Muscles / Q000201:enzymology / Q000473:pathology; D009135:Muscular Diseases / Q000175:diagnosis* / Q000209:etiology / Q000473:pathology
D003576:Electron Transport Complex IV
Deficit di citocromo c ossidasi. Esempi di eterogeneità clinica.