Single muscle fibre analyses in 2 brothers with succinate dehydrogenase deficiency.
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.
Reichmann
H
H
Department of Neurology, University of Würzburg, FRG.
Angelini
C
C
D000328:Adult; D001706:Biopsy; D002312:Cardiomyopathy, Hypertrophic / Q000201:enzymology / Q000235:genetics* / Q000473:pathology; D006801:Humans; D008297:Male; D009132:Muscles / Q000201:enzymology / Q000473:pathology*; D010641:Phenotype; D010784:Photomicrography; D013385:Succinate Dehydrogenase / Q000172:deficiency*
D013385:Succinate Dehydrogenase