Article
COQ2 mutation associated isolated nephropathy in two siblings from a Chinese pedigree.
Renal failure - 1 Dec 2021
Li Min, Yue Zhihui, Lin Hongrong, Wang Haiyan, Chen Huamu, Sun Liangzhong
Abstract excerpt
BACKGROUD: Coenzyme Q10 (CoQ10) is involved in the biosynthesis of adenosine triphosphate (ATP), and is most abundant in the mitochondrial membrane. The primary CoQ10 deficiency caused by COQ2 defect is mostly manifested as encephalopathy, encephalopathy with nephropathy, and rarely as an isolated nephrotic syndrome. METHODS: Clinical and pathological data and peripheral blood samples of 2 siblings with...
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