Article
[Importance of germ cell mosaic for genetic counseling of families with Duchenne and Becker muscular dystrophy].
Klinische Padiatrie - 1 Jan 2000
Janka M, Grimm T
Abstract excerpt
Germ cell mosaics were demonstrated in Duchenne's and Becker's muscular dystrophy by molecular genetic methods. These findings affect risk estimates in these x-chromosomal muscular diseases. The mutation-selection equilibrium for x-chromosomally lethal inheritance for determining the a priori probability for risk estimate according to the Bayes theorem must therefore be redefined to take the germ cell mosaic...
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