Biousse V, Brown M D, Newman N J, Allen J C, Rosenfeld J, Meola G, Wallace D C
Department of Ophthalmology, Emory University School of Medicine, Atlanta, GA, USA.
Neurology. 1997 Oct;49(4):1136-8. doi: 10.1212/wnl.49.4.1136.
Monozygotic twin brothers, clinically discordant for Leber's hereditary optic neuropathy (LHON), had a heteroplasmic point mutation at position 14484 in the mitochondrial DNA that was not detected in their mother. Moreover, the mutation occurred on the rare European haplogroup X, rather than the haplogroup J commonly associated with the 14484 mutation. These data indicate that the 14484 mutation in this family was a new mutation, indicating that it was the de novo occurrence of a common, primary LHON mutation.
一对单卵双胞胎兄弟，临床上患Leber遗传性视神经病变（LHON）的情况不一致，他们的线粒体DNA第14484位存在异质性点突变，而其母亲未检测到该突变。此外，该突变发生在罕见的欧洲单倍群X上，而非通常与14484突变相关的单倍群J。这些数据表明，这个家族中的14484突变是一个新突变，意味着这是一种常见的原发性LHON突变的从头发生。
