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母系遗传糖尿病和耳聋的综述。

A review of maternally inherited diabetes and deafness.

机构信息

Institute for Integrated Traditional and Western Medicine, the Second Affiliated Hospital of Xingtai Medical College, Xingtai 054000, Hebei Province, China.

Department of Health, Hotan Detachment of the Xinjiang Armed Police Corps, Hotan 848011, Xinjiang Uygur Autonomous Region, China.

出版信息

Front Biosci (Landmark Ed). 2014 Jan 1;19(5):777-82. doi: 10.2741/4244.

DOI:10.2741/4244
PMID:24389221
Abstract

Maternally inherited diabetes and deafness (MIDD), a mitochondrial disease first described in 1992, results from the mitochondrial DNA mutation and affects up to 1% of the patients with diabetes. This review discusses the biomedical mechanisms of MIDD patients; summarizes the recent improvement of clinical and genetic diagnosis of MIDD; outlines the advances of the clinical management of these patients and their families.

摘要

母系遗传糖尿病伴耳聋(MIDD)是一种线粒体疾病,于 1992 年首次描述,由线粒体 DNA 突变引起,影响多达 1%的糖尿病患者。本文讨论了 MIDD 患者的生物医学机制;总结了 MIDD 的临床和遗传诊断的最新进展;概述了这些患者及其家属的临床管理的进展。

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A Method for In Situ Reverse Genetic Analysis of Proteins Involved mtDNA Replication.一种用于 mtDNA 复制相关蛋白的原位反向遗传学分析的方法。
Cells. 2022 Jul 11;11(14):2168. doi: 10.3390/cells11142168.
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Front Endocrinol (Lausanne). 2021 Nov 25;12:728043. doi: 10.3389/fendo.2021.728043. eCollection 2021.
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