Clinical Chemistry
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Clinical Chemistry 29: 161-163, 1983;
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Clinical Chemistry, Vol 29, 161-163, Copyright © 1983 by American Association for Clinical Chemistry

Screening for neonatal Duchenne muscular dystrophy by bioluminescence measurement of creatine kinase in a blood sample spotted on paper

C Dellamonica, C Collombel, J Cotte and P Addis

Neonatal screening for Duchenne-type muscular dystrophy is greatly simplified by use of a new bioluminescence procedure for creatine kinase. The blood of newborn myopathic children consistently showed increased activity. The improved method permits the analysis from a dried sample of whole blood spotted on filter paper; it shows high correlation with existing procedures and is highly specific and precise. The use of the improved method in a screening program involving 158 000 newborns is reviewed. We find a prevalence of 1/5929 living eighth-day boys.




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Copyright © 1983 by the American Association for Clinical Chemistry.