Single Muscle Fibre Analyses in 2 Brothers with Succinate Dehydrogenase Deficiency
- 1 January 1994
- journal article
- Published by S. Karger AG in European Neurology
- Vol. 34 (2) , 95-98
- https://doi.org/10.1159/000117016
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.Keywords
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