Rydzanicz Małgorzata, Mrugacz Małgorzata, Gajecka Marzena
Z Zakładu Mutagenezy Srodowiskowej Instytutu Genetyki Człowieka Polskiej Akademii Nauk, Poznaniu.
Klin Oczna. 2008;110(7-9):321-4.
Mitochondrial diseases are caused by mitochondrial structure aberrations and function deficiency. The clinical heterogeneity of mitochondrial diseases is associated with the type of causing mutations (de novo or maternally transmitted mutations), and several aspects of mitochondrial genetics and inheritance, including heteroplasmy. In this paper, we explain the basics of mitochondrial genetics and inheritance as well as genetic background of mitochondrial related disorders: Leber's hereditary optic neuropathy and Kearns' syndrome.
线粒体疾病是由线粒体结构畸变和功能缺陷引起的。线粒体疾病的临床异质性与致病突变的类型（新发突变或母系遗传突变）以及线粒体遗传学和遗传的几个方面有关，包括异质性。在本文中，我们解释了线粒体遗传学和遗传的基础知识以及线粒体相关疾病（Leber遗传性视神经病变和卡恩斯综合征）的遗传背景。
