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

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

Research output: Contribution to journalArticlepeer-review

16 Scopus citations


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.

Original languageEnglish (US)
Pages (from-to)1399-1402
Number of pages4
Issue number9
StatePublished - Sep 1988
Externally publishedYes

All Science Journal Classification (ASJC) codes

  • Clinical Neurology


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