Fryer A, Appleton R, Sweeney M G, Rosenbloom L, Harding A E
Royal Liverpool Children's Hospital (Alder Hey), Department of Clinical Genetics.
Arch Dis Child. 1994 Nov;71(5):419-22. doi: 10.1136/adc.71.5.419.
The mitochondrial DNA (mtDNA) mutation 8993 is an important cause of Leigh's encephalopathy. A family is reported where other affected members have presented with non-specific delayed development or cerebral palsy. The diagnosis should be considered not only in children with Leigh's encephalopathy, but also in those with mild neurological dysfunction (including cerebral palsy) if there is a pigmentary retinopathy or a family history of neurological or ophthalmological disease. There was some correlation in this family between the disease severity and the proportion of mutant mtDNA in the blood. This mutation appears to segregate to high levels of mutant mtDNA rapidly within pedigrees and the mother of a severely affected child has a high risk of having further children with a high proportion of mutant mtDNA and a severe phenotype.
线粒体DNA（mtDNA）8993突变是 Leigh 脑病的一个重要病因。本文报告了一个家族，该家族中其他患病成员表现为非特异性发育迟缓或脑瘫。不仅患有 Leigh 脑病的儿童应考虑进行该诊断，对于那些有色素性视网膜病变或神经或眼科疾病家族史的轻度神经功能障碍（包括脑瘫）患者也应考虑。在这个家族中，疾病严重程度与血液中突变型mtDNA的比例之间存在一定相关性。这种突变似乎在系谱中迅速分离出高水平的突变型mtDNA，重症患儿的母亲生育携带高比例突变型mtDNA且表型严重的孩子的风险很高。
