Bohlega S, Tanji K, Santorelli F M, Hirano M, al-Jishi A, DiMauro S
Department of Medicine, King Faisal Specialist Hospital and Research Center, Riyadh, Kingdom of Saudi Arabia.
Neurology. 1996 May;46(5):1329-34. doi: 10.1212/wnl.46.5.1329.
Six patients in two unrelated families from the eastern Arabian peninsula presented with childhood-onset progressive external ophthalmoplegia (PEO), mild facial and proximal limb weakness, and severe cardiomyopathy requiring cardiac transplantation. Muscle biopsies showed ragged-red and cytochrome c oxidase-negative fibers. The activities of several complexes in the electron-transport chain were decreased and Southern blot analysis showed multiple mtDNA deletions. The apparent autosomal-recessive inheritance and the association with cardiomyopathy distinguish this syndrome from autosomal-dominant PEO with multiple mtDNA deletions. The combination of autosomal-recessive PEO, cardiomyopathy, and multiple mtDNA deletions appears to be another disease due to a defect of communication between the nuclear and mitochondrial genomes.
来自阿拉伯半岛东部两个无亲缘关系家族的6名患者，表现为儿童期起病的进行性眼外肌麻痹（PEO）、轻度面部和近端肢体无力，以及严重的心肌病，需要进行心脏移植。肌肉活检显示有破碎红纤维和细胞色素c氧化酶阴性纤维。电子传递链中几种复合物的活性降低，Southern印迹分析显示多个线粒体DNA缺失。明显的常染色体隐性遗传以及与心肌病的关联，使该综合征有别于伴有多个线粒体DNA缺失的常染色体显性PEO。常染色体隐性PEO、心肌病和多个线粒体DNA缺失的组合，似乎是另一种由于核基因组与线粒体基因组之间通讯缺陷所致的疾病。
