Penisson-Besnier I, Degoul F, Desnuelle C, Dubas F, Josi K, Emile J, Lestienne P
INSERM U. 298, CHRU Angers, France.
J Neurol Sci. 1992 Jul;110(1-2):144-8. doi: 10.1016/0022-510x(92)90021-c.
A new family of myoclonic epilepsy with ragged-red fibers (MERRF) was studied at clinical, histological, biochemical and molecular genetic levels. There was a remarkable variation in the age of onset, the clinical presentation and the severity of symptoms. Multiple defects affecting respiratory chain complexes I, III and IV were detected in 2 patients. The point mutation at 8344 of the mitochondrial genome was found in all the maternal lineage with a relatively narrow range of variation in the percentage of mutant mitochondrial genomes. The one exception was represented by a set of dizygotic twins, one clinically affected and showing high proportions of mutant mitochondrial DNAs (mtDNAs) in blood cells, while the other was asymptomatic and showed very small amounts of mutant mt-DNAs in blood and skin. This could suggest an early segregation of the mitochondrial genome during ovogenesis.
对一个新的伴有破碎红纤维的肌阵挛性癫痫（MERRF）家系进行了临床、组织学、生化和分子遗传学水平的研究。发病年龄、临床表现和症状严重程度存在显著差异。在2例患者中检测到影响呼吸链复合体I、III和IV的多个缺陷。在线粒体基因组8344位点的点突变在所有母系中均被发现，突变线粒体基因组的百分比变化范围相对较窄。唯一的例外是一对异卵双胞胎，其中一个有临床症状，血细胞中突变线粒体DNA（mtDNA）比例很高，而另一个无症状，血液和皮肤中突变mtDNA含量极少。这可能提示卵子发生过程中线粒体基因组的早期分离。
