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伴有巨大线粒体的眼肌病(作者译)

[Ocular myopathy with giant mitochondriae (author's transl)].

作者信息

Binder S, Sluga E

出版信息

Klin Monbl Augenheilkd. 1977 Nov;171(5):786-91.

PMID:599868
Abstract

A case of progressive external ophthalmoplegia and a slight coincident affection of the scapulohumeral muscle group is recorded. Thorough examination including EMG and biopsy from ocular and skeletal muscle tissue confirmed the clinical diagnosis of myopathy. By means of electron microscopy the affection could be identified as a type of myopathy characterized by giant mitochondriae. Causative factors were not detectable. The function of the thyroid and the carnitine level in the muscle tissue and blood serum were normal.

摘要

记录了一例进行性眼外肌麻痹病例,同时伴有肩胛带肌群轻度受累。包括肌电图以及眼肌和骨骼肌组织活检在内的全面检查证实了肌病的临床诊断。通过电子显微镜检查,可将这种病变确定为一种以巨大线粒体为特征的肌病类型。未检测到致病因素。甲状腺功能以及肌肉组织和血清中的肉碱水平均正常。

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