Article
Wild-Type Mitochondrial DNA Copy Number in Urinary Cells as a Useful Marker for Diagnosing Severity of the Mitochondrial Diseases.
PloS one - 1 Jan 2013
Liu Hui, Ma Yinan, Fang Fang, Zhang Ying, Zou Liping, Yang Yanling, Zhu Sainan, Wang Songtao, Zheng Xuefei, Pei Pei, Li Lin, Wu Hairong, Xiao Yang, Xu Yufeng, Wang Liwen, Cao Yanyan, Pan Hong, Qi Yu
Abstract excerpt
The genotype-phenotype relationship in diseases with mtDNA point mutations is still elusive. The maintenance of wild-type mtDNA copy number is essential to the normal mitochondrial oxidative function. This study examined the relationship between mtDNA copy number in blood and urine and disease severity of the patients harboring A3243G mutation. We recruited 115 A3243G patients, in which 28 were asymptomatic, 42...
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