线粒体DNA突变与神经肌肉疾病
Mitochondrial DNA mutations and neuromuscular disease.
作者信息
Wallace D C
出版信息
Trends Genet. 1989 Jan;5(1):9-13. doi: 10.1016/0168-9525(89)90005-x.
PMID:2652392
Abstract
Mitochondrial DNA mutations have been identified in patients with certain neuromuscular diseases. Point mutations have been associated with maternally inherited diseases, while deletions have been identified in some 'spontaneous' cases.
摘要
在某些神经肌肉疾病患者中已发现线粒体DNA突变。点突变与母系遗传疾病有关，而缺失则在一些“散发”病例中被发现。
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