Article
Heterogeneity of six children and their mothers with mitochondrial DNA 3243 A>G mutation.
Mitochondrial DNA - 1 Jun 2013
Ma Yan-Yan, Wu Tong-Fei, Liu Yu-Peng, Wang Qiao, Li Xi-Yuan, Song Jin-Qing, Shi Xiu-Yu, Zhang Wei-Na, Zhao Meng, Hu Ling-Yan, Yang Yan-Ling, Zou Li-Ping
Abstract excerpt
To study the clinical, biochemical, and genetic heterogeneity of six Chinese patients and their mothers with the 3243 A>G mutation, six patients (ranging from 5 to 11 years) were hospitalized. All the mothers were healthy. Mitochondrial respiratory chain enzyme activities were determined by spectrophotometry. Mitochondrial gene was analyzed in all patients. Six core pedigrees were investigated. Two patients had...
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