Case Reports
doi: 10.1136/jmg.27.5.288.
X linked neonatal myotubular myopathy: one recombination detected with four polymorphic DNA markers from Xq28
Affiliations
- PMID: 1972196
- PMCID: PMC1017077
- DOI: 10.1136/jmg.27.5.288
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Case Reports
X linked neonatal myotubular myopathy: one recombination detected with four polymorphic DNA markers from Xq28
J Med Genet.
1990 May.
Abstract
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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