Abstract
To evaluate eight frequently encountered mitochondrial DNA (mtDNA) point mutations (A3243G, T8993G/C, A8344G, A1555G, G11778A, G3460A and T14484C) in Chinese, we recruited 1559 sporadic patients suspected of mitochondrial diseases and 206 family members. In suspected patients, 158 cases were detected with one of these eight mtDNA mutations (10.1%). A3243G was the most common mtDNA mutation both in suspected patients (9.4%) and in the relatives (34.2%). In addition, the ratios of A3243G (mutant/wild-type) and A8344G were significantly correlated with the patients' age of examination. Moreover, in 76 unrelated probands, the ratio of A3243G was correlated well with their seizures and myopathies.
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Citations
Aug 19, 2011·Journal of Human Genetics·Danhua ZhaoZhaoxia Wang
Jan 30, 2013·Biochemical and Biophysical Research Communications·Najla MezghaniFaiza Fakhfakh
Jan 31, 2013·Mitochondrial DNA·Yan-Yan MaLi-Ping Zou
Jan 21, 2014·Mitochondrial DNA·Viktoria RemenyiMaria Judit Molnar
Jan 28, 2017·Muscle & Nerve·Simão CruzLaura Vilarinho