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Kearns-Sayre syndrome in twins: lethal dominant mutation or acquired disease?

作者信息

Rowland L P, Hausmanowa-Petrusewicz I, Bardurska B, Warburton D, Nibroj-Dobosz I, DiMauro S, Pallai M, Johnson W G

机构信息

Neurological Institute, Columbia-Presbyterian Medical Center, New York, NY 10032-3784.

出版信息

Neurology. 1988 Sep;38(9):1399-402. doi: 10.1212/wnl.38.9.1399.

DOI:10.1212/wnl.38.9.1399
PMID:3412586
Abstract

We studied twin brothers who met all diagnostic criteria for the Kearns-Sayre syndrome (KSS). The twins reinforce the view that KSS is a specific syndrome. They raise the possibility that the condition is inherited as a lethal dominant trait, a mode of inheritance that explains the observed paucity of familial cases. However, these cases do not exclude the possibility of an acquired cause, such as persistent viral infection of the brain.

摘要

相似文献

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