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

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

L P Rowland  1 , I Hausmanowa-Petrusewicz, B Bardurska, D Warburton, I Nibroj-Dobosz, S DiMauro, M Pallai, W G Johnson
Affiliations
Case Reports

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

L P Rowland et al. Neurology. 1988 Sep.

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.

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Comment in

  • Kearns-Sayre syndrome.
    Berenbaum F, Cote D, Pradat P, Rancurel G. Berenbaum F, et al. Neurology. 1990 Jan;40(1):193-4. doi: 10.1212/wnl.40.1.193. Neurology. 1990. PMID: 1688324 No abstract available.

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