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NEUROLOGY 1988;38:1399
© 1988 American Academy of Neurology

Kearns-Sayre syndrome in twins

Lethal dominant mutation or acquired disease?

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

Neurological Institute and the H. Houston Merritt Clinical Research Center for Muscular Dystrophy and Related Diseases (Drs. Rowland, Warburton, DiMauro, and Johnson, and Ms. Pallai), Columbia-Presbyterian Medical Center, New York, NY; and the Department of Neurology (Drs. Hausmanowa-Petrusewicz, Bardurska, and Nibroj-Dobosz), Academy of Medicine, Warsaw, Poland.

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.

Address correspondence and reprint requests to Dr. Rowland, Neurological Institute, Columbia-Presbyterian Medical Center, New York, NY 10032–3784.

Supported by Center Grants from NINCDS (NS-11766); RR-00645; and the Muscular Dystrophy Association.

Presented in part at the thirty-ninth annual meeting of the American Academy of Neurology, New York, NY, April 1987.

Received May 1, 1987. Accepted for publication in final form January 18, 1988.




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