Article
Different mosaicism frequencies for proximal and distal Duchenne muscular dystrophy (DMD) mutations indicate difference in etiology and recurrence risk.
American journal of human genetics - 1 Nov 1992
Passos-Bueno M R, Bakker E, Kneppers A L, Takata R I, Rapaport D, den Dunnen J T, Zatz M, van Ommen G J
Abstract excerpt
In about 65% of the cases of Duchenne muscular dystrophy (DMD) a partial gene deletion or duplication in the dystrophin gene can be detected. These mutations are clustered at two hot spots: 30% at the hot spot in the proximal part of the gene and about 70% at a more distal hot spot. Unexpectedly we observed a higher frequency of proximal gene rearrangements among proved "germ line" mosaic cases. Of the 24 mosaic...
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