多发性硬化症与线粒体肌病：一种罕见的疾病组合。
Multiple sclerosis and mitochondrial myopathy: an unusual combination of diseases.
作者信息
Bet L, Moggio M, Comi G P, Mariani C, Prelle A, Checcarelli N, Bordoni A, Bresolin N, Scarpini E, Scarlato G
机构信息
Istituto di Clinica Neurologica, Università degli Studi di Milano, Italy.
出版信息
J Neurol. 1994 Jul;241(8):511-6. doi: 10.1007/BF00919714.
A woman with definite multiple sclerosis (MS) and mitochondrial myopathy is described. There were widespread white matter lesions on magnetic resonance imaging (MRI), cerebrospinal fluid (CSF) abnormalities and evoked response changes. Muscle biopsy showed ragged red fibres (RRFs) and cytochrome c oxidase (CoX) deficiency. Southern blot analysis revealed a large deletion of mitochondrial DNA (mtDNA). The patient may be affected by two unrelated diseases, MS and mitochondrial myopathy, but this combination has never previously been reported.
本文描述了一名患有明确的多发性硬化症（MS）和线粒体肌病的女性。磁共振成像（MRI）显示广泛的白质病变，脑脊液（CSF）异常以及诱发电位变化。肌肉活检显示有破碎红纤维（RRFs）和细胞色素c氧化酶（CoX）缺乏。Southern印迹分析显示线粒体DNA（mtDNA）有大片段缺失。该患者可能患有两种不相关的疾病，即MS和线粒体肌病，但此前从未有过这种组合的报道。
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