科研之友
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摘要
The past 9 years have witnessed the development of a new chapter in human pathology related to mutations in the "other genome" or the "25th chromosome," namely mitochondrial DNA (mtDNA). An astounding array of multisystemic disorders, almost always involving muscle and brain (mitochondrial encephalomyopathies) have been attributed to over 50 point mutations and a multitude of rearrangements in mtDNA. Here, we review the still expanding spectrum of proven or putative mtDNA-related disorders, and we try to explain some peculiarities of these diseases according to the new rules of "mitochondrial genetics."
- 出版日期1998-1
