DiMauro S, Tanji K
Columbia University College of Physicians & Surgeons, New York, NY 10032, USA.
Jpn J Hum Genet. 1997 Dec;42(4):473-87. doi: 10.1007/BF02767024.
In this minireview, we attempt to survey the three main group of mitochondrial disorders, defects of nuclear DNA, defects of mitochondrial DNA, and defects of intergenomic signaling, with emphasis on recent contributions and pathogenetic mechanisms. In so doing, we have tried to point out some of the numerous unsolved problems in genotype/phenotype correlation and to indicate future directions of research.
在本综述中,我们试图概述线粒体疾病的三大主要类型,即核DNA缺陷、线粒体DNA缺陷和基因组间信号传导缺陷,并重点介绍近期的研究成果和发病机制。在此过程中,我们试图指出基因型/表型相关性方面众多未解决的问题,并指明未来的研究方向。