Midro A T, Zalewska R, Skrzypczak-Adamiak G, Wilichowski E
Zakładu Genetyki Klinicznej, AM w Białymstoku.
Klin Oczna. 1995 Jun;97(6):203-6.
We present a case of Kearns-Sayre syndrome diagnosed in a boy with retinitis pigmentosa ophthalmoplegia, ancephalomyopathy and cardiomyopathy. A single large-scale mtDNA deletion at very low level in the blood sample using Southern blot analyses and multiprimer DNA amplification was detected. This case demonstrates that retinitis pigmentosa may be due to genetic mitochondrial disturbances.
我们报告一例在一名患有色素性视网膜炎、眼肌麻痹、脑肌病和心肌病的男孩中诊断出的卡恩斯-塞尔综合征。使用Southern印迹分析和多重引物DNA扩增在血液样本中检测到单个大规模线粒体DNA缺失，且水平极低。该病例表明色素性视网膜炎可能归因于遗传性线粒体紊乱。
