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Article

Clinical and molecular characterization of pediatric mitochondrial disorders in south of China.

European journal of medical genetics - 1 Aug 2020

Hu Chaoping, Li Xihua, Zhao Lei, Shi Yiyun, Zhou Shuizhen, Wu Bingbing, Wang Yi

Abstract excerpt

Mitochondrial disorders (MDs) are genetic ailments affecting all age groups. Epidemiological data and frequencies of gene mutations in pediatric patients in China are scarce. This retrospective study assessed 101 patients with suspected MDs treated at the Neurology Department of Children's Hospital, Fudan University, in 2011-2017. Mitochondrial (mtDNA) and nuclear (nDNA) samples were assessed by long-range...

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Identifiers

PMID: 32348839
DOI: 10.1016/j.ejmg.2020.103898

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