Germinal mosaicism increases the recurrence risk for 'new' Duchenne muscular dystrophy mutations.

@article{Bakker1989GerminalMI,
  title={Germinal mosaicism increases the recurrence risk for 'new' Duchenne muscular dystrophy mutations.},
  author={E Bakker and H Veenema and Johan T den Dunnen and Christine van Broeckhoven and P. M. Grootscholten and Erik J. Bonten and Gertjan JB van Ommen and Peter L. Pearson},
  journal={Journal of medical genetics},
  year={1989},
  volume={26 9},
  pages={553-9}
}
In 288 Dutch and Belgian Duchenne and Becker muscular dystrophy families, the parental origin of 41 new deletion or duplication mutations was determined. Twenty seven of the new mutations occurred in the maternal X chromosome and nine in the grandmaternal and five in the grandpaternal X chromosome. The grandparental data are compatible with equal mutation rates for DMD in male and female X chromosomes. New mutations were defined by their presence in one or more progeny and absence in the… CONTINUE READING
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Mosaicism for an intragenic X chromosome deletion in a male with mild ornithine transcarbamylase deficiency

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