title: Kearns-Sayre syndrome in twins: lethal dominant mutation or acquired disease?
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.
authors.affiliation: Neurological Institute, Columbia-Presbyterian Medical Center, New York, NY 10032-3784.
authors.forename: L P
authors.initials: LP
authors.lastname: Rowland
authors.forename: I
authors.initials: I
authors.lastname: Hausmanowa-Petrusewicz
authors.forename: B
authors.initials: B
authors.lastname: Bardurska
authors.forename: D
authors.initials: D
authors.lastname: Warburton
authors.forename: I
authors.initials: I
authors.lastname: Nibroj-Dobosz
authors.forename: S
authors.initials: S
authors.lastname: DiMauro
authors.forename: M
authors.initials: M
authors.lastname: Pallai
authors.forename: W G
authors.initials: WG
authors.lastname: Johnson
mesh_terms: D000328:Adult; D000367:Age Factors; D004200:Diseases in Twins; D030342:Genetic Diseases, Inborn / Q000235:genetics; D006801:Humans; D007625:Kearns-Sayre Syndrome / Q000209:etiology / Q000235:genetics*; D008297:Male; D009886:Ophthalmoplegia / Q000235:genetics*; D014430:Twins, Monozygotic