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.
Full text
PDF
Images in this article
Selected References
These references are in PubMed. This may not be the complete list of references from this article.
- Dahl N., Hammarström-Heeroma K., Goonewardena P., Wadelius C., Gustavson K. H., Holmgren G., van Ommen G. J., 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. doi: 10.1007/BF00291157. [DOI] [PubMed] [Google Scholar]
- Giacoia G. P., Hale J. E. X-linked neonatal myotubular myopathy. South Med J. 1984 Sep;77(9):1182–1185. doi: 10.1097/00007611-198409000-00035. [DOI] [PubMed] [Google Scholar]
- Silver M. M., Gilbert J. J., 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. doi: 10.1016/s0046-8177(86)80423-3. [DOI] [PubMed] [Google Scholar]