Single Muscle Fibre Analyses in 2 Brothers with Succinate Dehydrogenase Deficiency
作者:
Heinz Reichmann,
Corrado Angelini,
期刊:
European Neurology
(Karger Available online 1994)
卷期:
Volume 34,
issue 2
页码: 95-98
ISSN:0014-3022
年代: 1994
DOI:10.1159/000117016
出版商: S. Karger AG
关键词: Single fiber analysis;SDH deficiency;Cardiomyopathy
数据来源: Karger
摘要:
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.
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