对2名患有琥珀酸脱氢酶缺乏症的兄弟进行单肌纤维分析。

Single muscle fibre analyses in 2 brothers with succinate dehydrogenase deficiency.

作者信息

Reichmann H, Angelini C

机构信息

Department of Neurology, University of Würzburg, FRG.

出版信息

Eur Neurol. 1994;34(2):95-8. doi: 10.1159/000117016.

DOI:10.1159/000117016

PMID:8174601

Abstract

We report 2 brothers with hypertrophic cardiomyopathy, lipid storage and skeletal mitochondrial myopathy. Biochemical analyses detected complex II (succinate dehydrogenase) deficiency of the respiratory chain. Single fiber analyses using a microphotometer were performed and revealed reduced succinate dehydrogenase activity in all muscle fibers. This report shows the validity of kinetic microphotometric analysis in revealing complex II defects.

摘要

我们报告了2名患有肥厚型心肌病、脂质贮积和骨骼肌线粒体肌病的兄弟。生化分析检测到呼吸链的复合物II（琥珀酸脱氢酶）缺乏。使用显微光度计进行了单纤维分析，结果显示所有肌纤维中的琥珀酸脱氢酶活性均降低。本报告显示了动力学显微光度分析在揭示复合物II缺陷方面的有效性。