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J Med Genet. 1990 May; 27(5): 288–291.
PMCID: PMC1017077

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


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.

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Selected References

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  • Giacoia GP, Hale JE. X-linked neonatal myotubular myopathy. South Med J. 1984 Sep;77(9):1182–1185. [PubMed]
  • Silver MM, Gilbert JJ, Stewart S, Brabyn D, Jung J. Morphologic and morphometric analysis of muscle in X-linked myotubular myopathy. Hum Pathol. 1986 Nov;17(11):1167–1178. [PubMed]
  • Dahl N, Hammarström-Heeroma K, Goonewardena P, Wadelius C, Gustavson KH, Holmgren G, van Ommen GJ, Pettersson U. Isolation of a DNA probe of potential use for diagnosis of the fragile-X syndrome. Hum Genet. 1989 Jun;82(3):216–218. [PubMed]

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