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GENATLAS PHENOTYPE

last update : 21/10/2005

Symbol	COX4
Location	16q24.2
Name	subacute necrotizing encephalopathy, Leigh syndrome
Corresponding gene	COX4I1
related resource	MITOP database
Main clinical features	multisystem mitochondrial disorder; histochemical analysis of a muscle-biopsy sample showed virtually absent cytochrome c oxidase (COX) stain, and biochemical studies confirmed an isolated reduction of COX activity
Genetic determination
Function/system disorder	neurology
Type	disease