J Med Genet 27:288-291 doi:10.1136/jmg.27.5.288
  • Research Article

X linked neonatal myotubular myopathy: one recombination detected with four polymorphic DNA markers from Xq28.

  1. A E Lehesjoki,
  2. E M Sankila,
  3. J Miao,
  4. M Somer,
  5. R Salonen,
  6. J Rapola,
  7. A de la Chapelle
  1. Department of Medical Genetics, University of Helsinki, Finland.


      A three generation family with X linked myotubular myopathy (MTM1) was studied with several polymorphic markers from the distal long arm of the X chromosome. A recombination between the disease gene and four markers (loci DXS52, DXS134, DXS15, F8C) from the Xq28 cluster was detected. A new polymorphic marker (U6.2) defining the locus DXS304 in the Xq27-28 region proximal to the Xq28 cluster did not show any recombination with MTM1. These results suggest the following order of loci in distal Xq: cen-DXS42-DXS105-(DXS304, MTM1)-(DXS52, DXS134, DXS15, F8C)-tel.