A method for the detection of carriers of Duchenne muscular dystrophy--a preliminary report.
This report of a method to detect carriers of Duchenne muscular dystrophy describes a technique of tissue autoradiography that identifies increased uptake of [(3)H]leucine into some individual muscle fibers in muscle biopsies. Three obligate and seven of 11 sisters of affected boys are identified as carriers in this series. This method of identification may be of value in identifying those carriers undetected by other means, but remains to be further evaluated.
D000293:Adolescent; D000328:Adult; D001345:Autoradiography; D001706:Biopsy; D002648:Child; D003402:Creatine Kinase / Q000378:metabolism; D005260:Female; D006580:Genetic Carrier Screening / Q000379:methods*; D006801:Humans; D007930:Leucine / Q000378:metabolism; D008875:Middle Aged; D009132:Muscles / Q000378:metabolism / Q000473:pathology; D009136:Muscular Dystrophies / Q000235:genetics* / Q000517:prevention & control; D014316:Tritium
D014316:Tritium; D003402:Creatine Kinase; D007930:Leucine