Lactate dehydrogenase isoenzyme in detecting carriers of Duchenne muscular dystrophy.
Thirty mothers of patients with Duchenne muscular dystrophy were studied with serum enzyme tests, including serum glutamic-oxaloacetic transminase, creatine kinase, and lactate dehydrogenase isoenzymes. In addition, females from the mothers' pedigrees were studied. Lactate dehydrogenase isoenzyme 5 determinations were as senitive an indicator of carrier status as creatine kinase and also identified several mothers who had normal dehydrogenase isoenzyme 5 determinations, as well as extensive pedigree testing, identified 28 to 30 mothers as probable heterozygotes. These data independently support the suggestion that cases of Duchenne muscular dystrophy as a result of spontaneous mutation are more uncommon than currently accepted.
D000328:Adult; D000368:Aged; D003402:Creatine Kinase / Q000097:blood; D005260:Female; D006579:Heterozygote; D006801:Humans; D007527:Isoenzymes; D007770:L-Lactate Dehydrogenase / Q000097:blood*; D008297:Male; D008875:Middle Aged; D009136:Muscular Dystrophies / Q000201:enzymology / Q000235:genetics*; D010375:Pedigree
D007527:Isoenzymes; D007770:L-Lactate Dehydrogenase; D003402:Creatine Kinase