TY - JOUR
T1 - Kearns-Sayre syndrome in twins
T2 - Lethal dominant mutation or acquired disease?
AU - Rowland, L. P.
AU - Hausmanowa-Petrusewicz, I.
AU - Bardurska, B.
AU - Warburton, D.
AU - Nibroj-Dobosz, I.
AU - DiMauro, S.
AU - Pallai, M.
AU - Johnson, W. G.
PY - 1988/9
Y1 - 1988/9
N2 - 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.
AB - 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.
UR - http://www.scopus.com/inward/record.url?scp=0023679997&partnerID=8YFLogxK
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U2 - 10.1212/wnl.38.9.1399
DO - 10.1212/wnl.38.9.1399
M3 - Article
C2 - 3412586
AN - SCOPUS:0023679997
SN - 0028-3878
VL - 38
SP - 1399
EP - 1402
JO - Neurology
JF - Neurology
IS - 9
ER -