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Article

Maternally inherited diabetes is associated with a homoplasmic T10003C mutation in the mitochondrial tRNA(Gly) gene.

Mitochondrion - 1 Mar 2015

Liu Hao, Li Ronghua, Li Weixing, Wang Meng, Ji Jingzhang, Zheng Jing, Mao Zhuochao, Mo Jun Qin, Jiang Pingping, Lu Jianxin, Guan Min-Xin

Abstract excerpt

In this report, we investigate molecular pathogenic mechanism of a diabetes-associated homoplasmic mitochondrial tRNA mutation in a Han Chinese family with maternally transmitted diabetes mellitus. Of 10 adult matrilineal relatives, 5 individuals suffered from diabetes (4 subjects with only diabetes, one subject with both diabetes and hearing impairment), while other five matrilineal relatives (one with hearing...

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Identifiers

PMID: 25615420
DOI: 10.1016/j.mito.2015.01.004

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