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Clinical and molecular features of two diabetes families carrying mitochondrial ND1 T3394C mutation.

Irish journal of medical science - 1 Apr 2022

You Xiaohong, Huang Xueming, Bi Luowen, Li Rui, Zheng Lin, Xin Changzheng

Abstract excerpt

BACKGROUND: Mutations in mitochondrial DNA (mtDNA) are found to be associated with type 2 diabetes mellitus (T2DM). However, the molecular pathogenesis of these mutations in T2DM is still poorly understood. METHODS: In this study, we report here the molecular features of two Han Chinese families with maternally transmitted T2DM. The matrilineal relatives are undergoing clinical, biochemical, genetic evaluations,...

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PMID: 33840063
DOI: 10.1007/s11845-021-02620-4

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