线粒体眼咽肌病1例。

Rivista di neurologia Pub Date : 1990-09-01
G Marcacci, G Siciliano, G Bevilacqua, P Viacava, B Rossi
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引用次数: 0

摘要

我们描述了一个55岁的男性影响眼睑下垂,轻度眼外麻痹和严重吞咽困难,由于咽食管运动障碍。骨骼肌和眼睑收缩肌肌电图显示肌原性改变。肌肉组织学表现为红色纤维不均匀及氧化组织化学改变,并结合超微结构检查线索诊断线粒体肌病。考虑到该病例不寻常的临床方面,这证实了线粒体疾病在其表型表达上可以广泛变化。
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[Mitochondrial oculopharyngeal myopathy: description of a case].

We describe a 55 years old man affected by eyelid ptosis, mild ophthalmoplegia externa and severe dysphagia owing to pharyngoesophageal dyskinesia. Skeletal and eyelid constrictor muscles EMG showed myogenic alterations. Muscle histological findings of ragged red fibers and oxidative histochemical alterations, together with ultrastructural investigation clue for mitochondrial myopathy diagnosis. This, considering the unusual clinical aspects of the case, confirms as mitochondrial disease can widely vary in their phenotypical expression.

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