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[因呼吸链中Q-细胞色素C氧化还原酶辅酶缺乏导致的线粒体疾病。1例新病例报告]

[Mitochondrial disease due to the deficit of Q-cytochrome C oxidoreductase coenzyme in the respiratory chain. Report of a new case].

作者信息

Roldán S, Lluch M D, Navarro Quesada F J, Hevia A

机构信息

Hospital Universitario Virgen de la Macarena. Dpto. de Pediatría, Sevilla.

出版信息

Rev Neurol. 1995 Jan-Feb;23(119):139-41.

PMID:8548609
Abstract

Reference has been made in the literature of the variability in the clinical presentation of deficiency of complex III of the respiratory chain, identifying up to the moment, four groups, the first of which is characterized by hipotonia and wearness starting at variable ages. We report a new case of mitochondrial myopathy due to deficiency of this complex and included within this first group, and consider the importance of defining the clinical and histochemical characteristics of this polymorphous entity.

摘要

文献中提到了呼吸链复合体III缺乏的临床表现的变异性,目前已确定有四组,其中第一组的特征是在不同年龄开始出现肌张力减退和疲劳。我们报告了一例由于该复合体缺乏导致的线粒体肌病的新病例,该病例属于第一组,并认为明确这种多形性疾病的临床和组织化学特征很重要。

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1
[Mitochondrial disease due to the deficit of Q-cytochrome C oxidoreductase coenzyme in the respiratory chain. Report of a new case].[因呼吸链中Q-细胞色素C氧化还原酶辅酶缺乏导致的线粒体疾病。1例新病例报告]
Rev Neurol. 1995 Jan-Feb;23(119):139-41.
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