Total and immunologically reacting muscle enolase in blood serum of Duchenne muscular dystrophy patients and carriers.
All of 12 patients with Duchenne muscular dystrophy manifested raised activity of serum enolase but only 10 showed elevation of immunologically reacting muscle enolase (IRM-enolase). Total enolase was raised in 4 of 12 mothers and one of 8 sisters of the affected subjects but IRM-enolase was elevated in only one mother. These results are consistent with the view that enolase, unlike creatine phosphokinase which showed much more pronounced increase in the serum of patients and their female relatives, is associated with a structural component of the muscle cell distinct from the presumed site of molecular abnormality in this disease.
D000328:Adult; D002675:Child, Preschool; D005260:Female; D006579:Heterozygote; D006720:Homozygote; D006801:Humans; D007527:Isoenzymes / Q000097:blood; D009132:Muscles / Q000201:enzymology*; D009136:Muscular Dystrophies / Q000201:enzymology*; D010375:Pedigree; D010751:Phosphopyruvate Hydratase / Q000097:blood* / Q000276:immunology; D012044:Regression Analysis
D007527:Isoenzymes; D010751:Phosphopyruvate Hydratase