Article
[Mitochondrial DNA mutation analysis in 97 Chinese patients with mitochondrial cephalomyopathy].
Zhonghua yi xue za zhi - 16 Dec 2008
Wang Zhao-xia, Luan Xing-hua, Zhang Ying, Yang Yan-ling, Qi Yu, Bu Ding-fang, Yuan Yun
Abstract excerpt
OBJECTIVE: To investigate the characteristics of mitochondrial DNA mutations and genotype-phenotype correlations in mitochondrial encephalomyopathies. METHODS: Biopsy of skeletal muscle and collection of peripheral blood samples were conducted among 97 patients with mitochondrial encephalomyopathies. Southern blotting, PCR-RFLP and direct sequencing of PCR products were performed to search large scale deletions,...
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