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Clinical features of mitochondrial DNA m.3243A>G mutation in 47 Chinese families.

Journal of the neurological sciences - 15 Apr 2010

Ma Yinan, Fang Fang, Cao Yanyan, Yang Yanling, Zou Liping, Zhang Ying, Wang Songtao, Zhu Sainan, Xu Yufeng, Pei Pei, Qi Yu

Abstract excerpt

m.3243A>G mutation in mitochondrial DNA is the most common pathogenic point mutation, causing a variety of phenotypes. To further elucidate its clinical characteristics, we recruited 47 Chinese families carrying m.3243A>G mutation and analyzed their symptoms, disease history, inheritance, and mitochondria-related complications. In the probands, lactic acidosis, myopathy, seizures, short stature, weight loss and...

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Brain Diseases
DNA, Mitochondrial
Family
Mitochondrial Diseases
Mothers

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PMID: 20149394
DOI: 10.1016/j.jns.2010.01.012

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