Deletions in Xq28 in two boys with myotubular myopathy and abnormal genital development define a new contiguous gene syndrome in a 430 kb region.

@article{Hu1996DeletionsIX,
  title={Deletions in Xq28 in two boys with myotubular myopathy and abnormal genital development define a new contiguous gene syndrome in a 430 kb region.},
  author={Ling Jia Hu and Jocelyn Laporte and Wolfram Kress and Petra Kioschis and Renate Siebenhaar and Annemarie Poustka and Michel Fardeau and Aida Metzenberg and Emiel A. M. Janssen and Nicholas S. T. Thomas and J. L. Mandel and Niklas Dahl},
  journal={Human molecular genetics},
  year={1996},
  volume={5 1},
  pages={139-43}
}
We have recently described a female patient with myotubular myopathy (MTM1) and an interstitial deletion at Xq28. Characterisation of the deletion allowed us to position the MTM1 gene to a 600 kb region between DXS304 and DXS497. In order to further restrict the region we screened for deletions in a set of 38 patients. We found two overlapping deletions in boys that in addition to MTM1 showed an unexpected abnormal genital development. As the latter phenotype is not found in the other non… CONTINUE READING

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