Detection of preclinical Duchenne muscular dystrophy and its female carriers

Beckmann, R.

Israel Journal of Medical Sciences 13(2): 102-106

1977


ISSN/ISBN: 0021-2180
PMID: 863671
Document Number: 3211
In our experience, positive CPK values can be detected in preclinical Duchenne boys between the fourth and seventh days of life. We have obtained ca. 0.3% false positive results. At the beginning of our study, cord blood was used but the rate of false positive results was 2.0%. It will not be possible to discuss the false negative results for some years, since additional cases of Duchenne muscular dystrophy may be found among the 16,520 children tested. However, it is unlikely that there will be any such cases, since the CPK values of the preclinical cases are usually so high that they cannot be missed.

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Detection of preclinical Duchenne muscular dystrophy and its female carriers