OCULOSKELETAL MYOPATHY WITH ABNORMAL MITOCHONDRIA

被引：5

作者：

BRIL, V ^{[1
]}

REWCASTLE, NB ^{[1
]}

HUMPHREY, J ^{[1
]}

机构：

[1] UNIV TORONTO, TORONTO GEN HOSP, DIV NEUROPATHOL, TORONTO M5G 1L7, ONTARIO, CANADA

来源：

CANADIAN JOURNAL OF NEUROLOGICAL SCIENCES | 1984年 / 11卷 / 03期

关键词：

D O I：

10.1017/S0317167100045789

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

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 EM. These patients form a distinct clincal group in which the risk of sudden cardiac death is much less than it is in the Kearns-Sayre syndrome.

引用

页码：390 / 394

页数：5

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