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[Neonatal screening for duchenne myopathy by serum elevation of creatine phosphokinase activity. 5 years experience].

作者信息

Plauchu H, Dellamonica C, Pascal B, Jolivet M J, Guibaud P, Cotte J, Robert J M

出版信息

J Genet Hum. 1981 Mar;29(1):59-69.

PMID:7334342
Abstract

The systematic seek of an increased activity of the SCK among all newborns has permitted the detection of the Duchenne-type muscular dystrophy in the "Rhone-alpes" area. By the survey of 40,000 births during 5 years and the detection of 16 Duchenne-type muscular dystrophies the authors estimate the incidence of DMD at 1/6500 living new born boys. The number of false positives (1,5 p. 1000) is little and, up to now, no false negative has been recorded. A few boys and girls keep and increased activity of the SCK, and 3 boys hae a Becker-type muscular dystrophy.

摘要

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