MULTIPLE-SCLEROSIS AND MITOCHONDRIAL MYOPATHY - AN UNUSUAL COMBINATION OF DISEASES

被引：15

作者：

BET, L

MOGGIO, M

COMI, GP

MARIANI, C

PRELLE, A

CHECCARELLI, N

BORDONI, A

BRESOLIN, N

SCARPINI, E

SCARLATO, G

机构：

[1] Istituto di Clinica Neurologica, Università degli Studi di Milano, Milano, I-20122, Via Francesco Sforza

来源：

JOURNAL OF NEUROLOGY | 1994年 / 241卷 / 08期

关键词：

MULTIPLE SCLEROSIS; MITOCHONDRIAL DNA (MUSCLE); MITOCHONDRIAL MYOPATHY;

D O I：

10.1007/BF00919714

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

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.

引用

页码：511 / 516

页数：6

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