Article
[Phenotype heterogeneity associated with mitochondrial DNA A3243G mutation].
Zhongguo yi xue ke xue yuan xue bao. Acta Academiae Medicinae Sinicae - 1 Feb 2005
Zhang Ying, Wang Zhao-xia, Niu Shu-lan, Xu Yu-feng, Pei Pei, Yuan Yun, Yang Yan-ling, Qi Yu
Abstract excerpt
OBJECTIVE: To discuss the clinical characteristics associated with mitochondrial DNA A3243G mutation. METHODS: Clinical manifestations as well as results of brain CT and/or MRI scanning, blood level of lactic acid and muscle biopsy results of 25 mitochondrial encephalomyopathies patients whose A3243G mutations were analyzed. RESULTS: Although all of the 25 patients carried mtDNA A3243G point mutation, their...
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