Harding A E, Petty R K, Morgan-Hughes J A
Department of Clinical Neurology, Institute of Neurology and National Hospital for Nervous Diseases, London.
J Med Genet. 1988 Aug;25(8):528-35. doi: 10.1136/jmg.25.8.528.
Of 71 index cases with histologically defined mitochondrial myopathy, 13 (18%) had relatives who were definitely affected with a similar disorder. Eight familial cases from four families were confined to a single generation. In five families maternal transmission to offspring occurred. There were no instances of paternal transmission, but one patient had an affected cousin in the paternal line. No consistent clinical syndrome or pattern of inheritance emerged for any identified defect of the mitochondrial respiratory chain, localised biochemically in 41 cases. Overall, the recurrence rate was 3% for sibs and 5.5% for offspring of index cases. Review of published reports of familial cases of mitochondrial myopathy suggests that the ratio of maternal to paternal transmission is about 9:1. We conclude that these disorders may be caused by mutations of either nuclear or mitochondrial genes.
在71例经组织学确诊为线粒体肌病的索引病例中，13例（18%）有亲属被明确诊断患有类似疾病。来自四个家族的八例家族性病例局限于单一代际。在五个家族中出现了母系向子代的传递。没有父系传递的情况，但有一名患者在父系中有一个患病的堂兄弟。对于41例经生化定位的线粒体呼吸链任何已确定缺陷，均未出现一致的临床综合征或遗传模式。总体而言，索引病例的同胞复发率为3%，子代复发率为5.5%。对已发表的线粒体肌病家族性病例报告的回顾表明，母系与父系传递的比例约为9:1。我们得出结论，这些疾病可能由核基因或线粒体基因突变引起。
