Kawashima S, Nishizawa M
Department of Neurology, Jichi Medical School.
Nihon Rinsho. 1993 Sep;51(9):2391-5.
We reviewed familial cases of chronic progressive external ophthalmoplegia (CPEO) associated with multiple mitochondrial DNA (mtDNA) deletions. A new case of familial CPEO with multiple mtDNA deletions, which were detected in the proband's skeletal muscles by Southern blotting and in all the tissues examined by using the polymerase chain reaction is also described. There was an approximate correlation between the clinical severity of the muscle involvement and the amount of mtDNA with deletions. Most of these familial CPEO cases, with multiple mtDNA deletions, exhibited an autosomal dominant mode of transmission. Abnormalities of some nucleus-driven factors, involved in the replication of mtDNA, may result in these multiple mtDNA deletions.
我们回顾了与多种线粒体DNA（mtDNA）缺失相关的慢性进行性眼外肌麻痹（CPEO）家族病例。本文还描述了一例新的家族性CPEO病例，该病例存在多种mtDNA缺失，通过Southern印迹法在先证者的骨骼肌中检测到这些缺失，并通过聚合酶链反应在所有检测的组织中检测到。肌肉受累的临床严重程度与缺失的mtDNA数量之间存在大致的相关性。这些大多数存在多种mtDNA缺失的家族性CPEO病例表现为常染色体显性遗传模式。一些参与mtDNA复制的核驱动因子异常可能导致这些多种mtDNA缺失。
