Article
Mitochondrial DNA deletion in a girl with Fanconi's syndrome.
Pediatric nephrology (Berlin, Germany) - 1 Jan 2007
Au Kam Ming, Lau Shing Chi, Mak Yuen Fun, Lai Wai Ming, Chow Tat Chong, Chen Mo Lung, Chiu Man Chun, Chan Albert Yan Wo
Abstract excerpt
We report a sporadic large-scale mitochondrial deletion in a paediatric patient with Fanconi's syndrome. Renal biopsy disclosed chronic interstitial nephritis. Ultrastructural examination of the renal tissue showed many giant atypical mitochondria. Histochemical stains revealed markedly reduced cytochrome c oxidase (COX). Genetic analysis disclosed a novel mitochondrial deletion of 7.3 kb in both peripheral blood...
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