Genomic organization of the MTM1 gene implicated in X-linked myotubular myopathy (original) (raw)
- Original Paper
- Published: 19 October 1998
- Christophe Guiraud-Chaumeil1,
- Stephan M Tanner2,
- François Blondeau1,
- Ling-Jia Hu1,
- Serge Vicaire1,
- Sabina Liechti-Gallati2 &
- …
- Jean-Louis Mandel1
European Journal of Human Genetics volume 6, pages 325–330 (1998)Cite this article
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Abstract
X-linked recessive myotubular myopathy (XLMTM) is a very severe congenital muscular disease characterised by an impaired maturation of muscle fibres, and caused by defects in the MTM1 gene. This gene defines a new family of putative tyrosine phosphatases conserved through evolution. We have determined intronic flanking sequences for all the 15 exons to facilitate the detection of mutations in patients and genetic counselling. We characterised a new polymorphic marker in the immediate vicinity of the gene, which might prove useful for linkage analysis. Sequencing of the TATA-less predicted promoter provides the basis for transcriptional regulatory studies.
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Authors and Affiliations
- Institut de Génétique et de Biologie Moléculaire et Cellulaire, CNRS, Illkirch Cedex, France
Jocelyn Laporte, Christophe Guiraud-Chaumeil, François Blondeau, Ling-Jia Hu, Serge Vicaire & Jean-Louis Mandel - Department of Clinical Research & Department of Pediatrics, University of Berne–Inselspital, Berne, Switzerland
Stephan M Tanner & Sabina Liechti-Gallati
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- Jocelyn Laporte
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Correspondence toJean-Louis Mandel.
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Laporte, J., Guiraud-Chaumeil, C., Tanner, S. et al. Genomic organization of the MTM1 gene implicated in X-linked myotubular myopathy.Eur J Hum Genet 6, 325–330 (1998). https://doi.org/10.1038/sj.ejhg.5200189
- Received: 26 September 1997
- Revised: 22 December 1997
- Accepted: 24 December 1997
- Published: 19 October 1998
- Issue Date: 01 July 1998
- DOI: https://doi.org/10.1038/sj.ejhg.5200189