Genomic organization of the MTM1 gene implicated in X-linked myotubular myopathy (original) (raw)

European Journal of Human Genetics volume 6, pages 325–330 (1998)Cite this article

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

  1. 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
  2. Department of Clinical Research & Department of Pediatrics, University of Berne–Inselspital, Berne, Switzerland
    Stephan M Tanner & Sabina Liechti-Gallati

Authors

  1. Jocelyn Laporte
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  2. Christophe Guiraud-Chaumeil
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  3. Stephan M Tanner
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  4. François Blondeau
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  5. Ling-Jia Hu
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  6. Serge Vicaire
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  7. Sabina Liechti-Gallati
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  8. Jean-Louis Mandel
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Corresponding author

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

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