Okamoto T, Mizuno K, Iida M, Sobue I, Mukoyama M
Arch Neurol. 1981 Jul;38(7):423-6. doi: 10.1001/archneur.1981.00510070057009.
Familial cases of progressive external ophthalmoplegia, deafness, generalized weakness, and hypogonadism were studied. A muscle biopsy specimen showed increased amounts of glycogen particles, lipid droplets, and mitochondria that frequently contained paracrystalline inclusion bodies between intramitochondrial and extramitochondrial membranes. Involvement of the CNS was suspected from a computed tomography scan that revealed diffuse, low-density deep cerebral white matter. Therapy with corticosteroids (prednisolone) was effective for recovery of muscular strength in the extremities. Possible involvement of the CNS in ophthalmoplegia-plus might be related to an abnormal metabolism of mitochondria.
对家族性进行性眼外肌麻痹、耳聋、全身无力和性腺功能减退病例进行了研究。肌肉活检标本显示糖原颗粒、脂滴和线粒体数量增加，线粒体内外膜之间的线粒体常含有类晶体包涵体。计算机断层扫描显示弥漫性、低密度的脑深部白质，怀疑中枢神经系统受累。使用皮质类固醇（泼尼松龙）治疗对四肢肌肉力量的恢复有效。中枢神经系统可能参与眼肌麻痹加征可能与线粒体代谢异常有关。
