Bril V, Rewcastle N B, Humphrey J
Can J Neurol Sci. 1984 Aug;11(3):390-4. doi: 10.1017/s0317167100045789.
A clinical, electrophysiological and pathological review of 14 patients having oculoskeletal myopathy with abnormal mitochondria was undertaken. These patients present with ophthalmoplegia, and mild skeletal muscle weakness. The clinical course is slowly progressive. Electromyographic examination shows myopathic changes. Serum enzymes are normal. The diagnosis is confirmed by skeletal muscle biopsy which shows abnormal mitochondria, including crystalloid inclusions on electron microscopy. These patients form a distinct clinical group in which the risk of sudden cardiac death is much less than it is in the Kearns-Sayre syndrome.
对14例患有线粒体异常的骨肌病患者进行了临床、电生理和病理回顾。这些患者表现为眼肌麻痹和轻度骨骼肌无力。临床病程呈缓慢进展。肌电图检查显示肌病性改变。血清酶正常。骨骼肌活检证实诊断，活检显示线粒体异常，包括电子显微镜下的晶体包涵体。这些患者形成了一个独特的临床群体，其心脏性猝死风险远低于卡恩斯-塞尔综合征患者。
