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

J Med Genet. 1990 May;27(5):288-91. doi: 10.1136/jmg.27.5.288.


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.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Cell Nucleus / ultrastructure*
  • Chromosome Aberrations*
  • DNA / analysis*
  • Genetic Linkage*
  • Genetic Markers / analysis
  • Humans
  • Infant, Newborn
  • Male
  • Multigene Family
  • Muscular Atrophy / genetics*
  • Muscular Atrophy / pathology
  • Pedigree
  • Polymorphism, Restriction Fragment Length
  • Recombination, Genetic
  • X Chromosome*


  • Genetic Markers
  • DNA