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MeSH Review

Muscular Dystrophy, Emery-Dreifuss

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Disease relevance of Muscular Dystrophy, Emery-Dreifuss


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Chemical compound and disease context of Muscular Dystrophy, Emery-Dreifuss


Biological context of Muscular Dystrophy, Emery-Dreifuss


Anatomical context of Muscular Dystrophy, Emery-Dreifuss


Gene context of Muscular Dystrophy, Emery-Dreifuss


Analytical, diagnostic and therapeutic context of Muscular Dystrophy, Emery-Dreifuss


  1. Localization of the region homologous to the Duchenne muscular dystrophy locus on the mouse X chromosome. Heilig, R., Lemaire, C., Mandel, J.L., Dandolo, L., Amar, L., Avner, P. Nature (1987) [Pubmed]
  2. Lamin A/C deficiency causes defective nuclear mechanics and mechanotransduction. Lammerding, J., Schulze, P.C., Takahashi, T., Kozlov, S., Sullivan, T., Kamm, R.D., Stewart, C.L., Lee, R.T. J. Clin. Invest. (2004) [Pubmed]
  3. Assignment of Emery-Dreifuss muscular dystrophy to the distal region of Xq28: the results of a collaborative study. Consalez, G.G., Thomas, N.S., Stayton, C.L., Knight, S.J., Johnson, M., Hopkins, L.C., Harper, P.S., Elsas, L.J., Warren, S.T. Am. J. Hum. Genet. (1991) [Pubmed]
  4. Molecular evidence that the p55 gene is not responsible for either of two Xq28-linked disorders: Emery-Dreifuss muscular dystrophy and dyskeratosis congenita. Metzenberg, A.B., Pan, Y., Das, S., Pai, G.S., Gitschier, J. Am. J. Hum. Genet. (1994) [Pubmed]
  5. Lamins in disease: why do ubiquitously expressed nuclear envelope proteins give rise to tissue-specific disease phenotypes? Hutchison, C.J., Alvarez-Reyes, M., Vaughan, O.A. J. Cell. Sci. (2001) [Pubmed]
  6. Emerin deficiency at the nuclear membrane in patients with Emery-Dreifuss muscular dystrophy. Nagano, A., Koga, R., Ogawa, M., Kurano, Y., Kawada, J., Okada, R., Hayashi, Y.K., Tsukahara, T., Arahata, K. Nat. Genet. (1996) [Pubmed]
  7. Loss of A-type lamin expression compromises nuclear envelope integrity leading to muscular dystrophy. Sullivan, T., Escalante-Alcalde, D., Bhatt, H., Anver, M., Bhat, N., Nagashima, K., Stewart, C.L., Burke, B. J. Cell Biol. (1999) [Pubmed]
  8. MAN1 and emerin have overlapping function(s) essential for chromosome segregation and cell division in Caenorhabditis elegans. Liu, J., Lee, K.K., Segura-Totten, M., Neufeld, E., Wilson, K.L., Gruenbaum, Y. Proc. Natl. Acad. Sci. U.S.A. (2003) [Pubmed]
  9. Different mutations in the LMNA gene cause autosomal dominant and autosomal recessive Emery-Dreifuss muscular dystrophy. Raffaele Di Barletta, M., Ricci, E., Galluzzi, G., Tonali, P., Mora, M., Morandi, L., Romorini, A., Voit, T., Orstavik, K.H., Merlini, L., Trevisan, C., Biancalana, V., Housmanowa-Petrusewicz, I., Bione, S., Ricotti, R., Schwartz, K., Bonne, G., Toniolo, D. Am. J. Hum. Genet. (2000) [Pubmed]
  10. Mutational and haplotype analyses of families with familial partial lipodystrophy (Dunnigan variety) reveal recurrent missense mutations in the globular C-terminal domain of lamin A/C. Speckman, R.A., Garg, A., Du, F., Bennett, L., Veile, R., Arioglu, E., Taylor, S.I., Lovett, M., Bowcock, A.M. Am. J. Hum. Genet. (2000) [Pubmed]
  11. Early onset of cardiomyopathy in two brothers with X-linked Emery-Dreifuss muscular dystrophy. Talkop, U.A., Talvik, I., Sõnajalg, M., Sibul, H., Kolk, A., Piirsoo, A., Warzok, R., Wulff, K., Wehnert, M.S., Talvik, T. Neuromuscul. Disord. (2002) [Pubmed]
  12. Mouse model carrying H222P-Lmna mutation develops muscular dystrophy and dilated cardiomyopathy similar to human striated muscle laminopathies. Arimura, T., Helbling-Leclerc, A., Massart, C., Varnous, S., Niel, F., Lacène, E., Fromes, Y., Toussaint, M., Mura, A.M., Keller, D.I., Amthor, H., Isnard, R., Malissen, M., Schwartz, K., Bonne, G. Hum. Mol. Genet. (2005) [Pubmed]
  13. Nuclear lamin A/C R482Q mutation in canadian kindreds with Dunnigan-type familial partial lipodystrophy. Cao, H., Hegele, R.A. Hum. Mol. Genet. (2000) [Pubmed]
  14. SSCP detection of novel mutations in patients with Emery-Dreifuss muscular dystrophy: definition of a small C-terminal region required for emerin function. Nigro, V., Bruni, P., Ciccodicola, A., Politano, L., Nigro, G., Piluso, G., Cappa, V., Covone, A.E., Romeo, G., D'Urso, M. Hum. Mol. Genet. (1995) [Pubmed]
  15. The cell cycle dependent mislocalisation of emerin may contribute to the Emery-Dreifuss muscular dystrophy phenotype. Fairley, E.A., Riddell, A., Ellis, J.A., Kendrick-Jones, J. J. Cell. Sci. (2002) [Pubmed]
  16. Early onset of X-linked Emery-Dreifuss muscular dystrophy in a boy with emerin gene deletion. Fujimoto, S., Ishikawa, T., Saito, M., Wada, Y., Wada, I., Arahata, K., Nonaka, I. Neuropediatrics. (1999) [Pubmed]
  17. The nuclear envelope, muscular dystrophy and gene expression. Wilson, K.L. Trends Cell Biol. (2000) [Pubmed]
  18. Expression of a mutant lamin A that causes Emery-Dreifuss muscular dystrophy inhibits in vitro differentiation of C2C12 myoblasts. Favreau, C., Higuet, D., Courvalin, J.C., Buendia, B. Mol. Cell. Biol. (2004) [Pubmed]
  19. Aberrant intracellular targeting and cell cycle-dependent phosphorylation of emerin contribute to the Emery-Dreifuss muscular dystrophy phenotype. Ellis, J.A., Craxton, M., Yates, J.R., Kendrick-Jones, J. J. Cell. Sci. (1998) [Pubmed]
  20. Review: lamina-associated polypeptide 2 isoforms and related proteins in cell cycle-dependent nuclear structure dynamics. Dechat, T., Vlcek, S., Foisner, R. J. Struct. Biol. (2000) [Pubmed]
  21. Emerin binding to Btf, a death-promoting transcriptional repressor, is disrupted by a missense mutation that causes Emery-Dreifuss muscular dystrophy. Haraguchi, T., Holaska, J.M., Yamane, M., Koujin, T., Hashiguchi, N., Mori, C., Wilson, K.L., Hiraoka, Y. Eur. J. Biochem. (2004) [Pubmed]
  22. The nuclear muscular dystrophies. Wehnert, M.S., Bonne, G. Seminars in pediatric neurology. (2002) [Pubmed]
  23. Intracellular trafficking of emerin, the Emery-Dreifuss muscular dystrophy protein. Ostlund, C., Ellenberg, J., Hallberg, E., Lippincott-Schwartz, J., Worman, H.J. J. Cell. Sci. (1999) [Pubmed]
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