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Detection of eight frequently encountered point mutations in mitochondria in Chinese patients suggestive of mitochondrial encephalomyopathies.

Mitochondrion - 1 Jun 2010

Cao Yanyan, Ma Yinan, Zhang Ying, Li Yujie, Fang Fang, Wang Songtao, Bu Dingfang, Xu Yufeng, Pei Pei, Li Lin, Xiao Yang, Wu Hairong, Yang Yanling, Zou Liping, Qi Yu

Abstract excerpt

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 dete...

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PMID: 20123042
DOI: 10.1016/j.mito.2010.01.008

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-20123042-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

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