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MeSH Review

Myotonic Dystrophy

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Disease relevance of Myotonic Dystrophy


Psychiatry related information on Myotonic Dystrophy


High impact information on Myotonic Dystrophy


Chemical compound and disease context of Myotonic Dystrophy


Biological context of Myotonic Dystrophy


Anatomical context of Myotonic Dystrophy


Gene context of Myotonic Dystrophy


Analytical, diagnostic and therapeutic context of Myotonic Dystrophy


  1. Mice deficient in Six5 develop cataracts: implications for myotonic dystrophy. Klesert, T.R., Cho, D.H., Clark, J.I., Maylie, J., Adelman, J., Snider, L., Yuen, E.C., Soriano, P., Tapscott, S.J. Nat. Genet. (2000) [Pubmed]
  2. Letter: Insulin action in myotonic dystrophy and acanthosis nigricans. Barbosa, J. N. Engl. J. Med. (1976) [Pubmed]
  3. Decreased insulin sensitivity of forearm muscle in myotonic dystrophy. Moxley, R.T., Griggs, R.C., Goldblatt, D., VanGelder, V., Herr, B.E., Thiel, R. J. Clin. Invest. (1978) [Pubmed]
  4. DMPK dosage alterations result in atrioventricular conduction abnormalities in a mouse myotonic dystrophy model. Berul, C.I., Maguire, C.T., Aronovitz, M.J., Greenwood, J., Miller, C., Gehrmann, J., Housman, D., Mendelsohn, M.E., Reddy, S. J. Clin. Invest. (1999) [Pubmed]
  5. Loss of serotonin-containing neurons in the raphe of patients with myotonic dystrophy: a quantitative immunohistochemical study and relation to hypersomnia. Ono, S., Takahashi, K., Jinnai, K., Kanda, F., Fukuoka, Y., Kurisaki, H., Mitake, S., Inagaki, T., Yamano, T., Nagao, K. Neurology (1998) [Pubmed]
  6. Tau-positive fine granules in the cerebral white matter: a novel finding among the tauopathies exclusive to parkinsonism-dementia complex of Guam. Yamazaki, M., Hasegawa, M., Mori, O., Murayama, S., Tsuchiya, K., Ikeda, K., Chen, K.M., Katayama, Y., Oyanagi, K. J. Neuropathol. Exp. Neurol. (2005) [Pubmed]
  7. Cerebral abnormalities in myotonic dystrophy. Cerebral blood flow, magnetic resonance imaging, and neuropsychological tests. Chang, L., Anderson, T., Migneco, O.A., Boone, K., Mehringer, C.M., Villanueva-Meyer, J., Berman, N., Mena, I. Arch. Neurol. (1993) [Pubmed]
  8. Unstable triplet repeat sequences: a source of cancer mutations? Panzer, S., Kuhl, D.P., Caskey, C.T. Stem Cells (1995) [Pubmed]
  9. Microtubule-associated protein tau, heparan sulphate and alpha-synuclein in several neurodegenerative diseases with dementia. Spillantini, M.G., Tolnay, M., Love, S., Goedert, M. Acta Neuropathol. (1999) [Pubmed]
  10. Aberrant regulation of insulin receptor alternative splicing is associated with insulin resistance in myotonic dystrophy. Savkur, R.S., Philips, A.V., Cooper, T.A. Nat. Genet. (2001) [Pubmed]
  11. Genetic mapping of a second myotonic dystrophy locus. Ranum, L.P., Rasmussen, P.F., Benzow, K.A., Koob, M.D., Day, J.W. Nat. Genet. (1998) [Pubmed]
  12. Ribozyme-mediated trans-splicing of a trinucleotide repeat. Phylactou, L.A., Darrah, C., Wood, M.J. Nat. Genet. (1998) [Pubmed]
  13. Effect of the myotonic dystrophy (DM) mutation on mRNA levels of the DM gene. Sabouri, L.A., Mahadevan, M.S., Narang, M., Lee, D.S., Surh, L.C., Korneluk, R.G. Nat. Genet. (1993) [Pubmed]
  14. Expanded CUG repeats trigger aberrant splicing of ClC-1 chloride channel pre-mRNA and hyperexcitability of skeletal muscle in myotonic dystrophy. Mankodi, A., Takahashi, M.P., Jiang, H., Beck, C.L., Bowers, W.J., Moxley, R.T., Cannon, S.C., Thornton, C.A. Mol. Cell (2002) [Pubmed]
  15. Gastric and esophageal emptying in dystrophia myotonica. Effect of metoclopramide. Horowitz, M., Maddox, A., Maddern, G.J., Wishart, J., Collins, P.J., Shearman, D.J. Gastroenterology (1987) [Pubmed]
  16. Deoxycholic acid in myotonic dystrophy. Söderhäll, S., Gustafsson, J., Björkhem, I. Lancet (1982) [Pubmed]
  17. Trinucleotide repeat expansion at the myotonic dystrophy locus reduces expression of DMAHP. Klesert, T.R., Otten, A.D., Bird, T.D., Tapscott, S.J. Nat. Genet. (1997) [Pubmed]
  18. DNA triplet repeats mediate heterochromatin-protein-1-sensitive variegated gene silencing. Saveliev, A., Everett, C., Sharpe, T., Webster, Z., Festenstein, R. Nature (2003) [Pubmed]
  19. Cbk1p, a protein similar to the human myotonic dystrophy kinase, is essential for normal morphogenesis in Saccharomyces cerevisiae. Racki, W.J., Bécam, A.M., Nasr, F., Herbert, C.J. EMBO J. (2000) [Pubmed]
  20. The human ryanodine receptor gene: its mapping to 19q13.1, placement in a chromosome 19 linkage group, and exclusion as the gene causing myotonic dystrophy. MacKenzie, A.E., Korneluk, R.G., Zorzato, F., Fujii, J., Phillips, M., Iles, D., Wieringa, B., Leblond, S., Bailly, J., Willard, H.F. Am. J. Hum. Genet. (1990) [Pubmed]
  21. D19S51 is closely linked with and maps distal to the myotonic dystrophy locus on 19q. Tsilfidis, C., MacKenzie, A.E., Shutler, G., Leblond, S., Bailly, J., Johnson, K., Williamson, R., Siegel-Bartelt, J., Korneluk, R.G., Shelbourne, P. Am. J. Hum. Genet. (1991) [Pubmed]
  22. Megacolon in myotonic dystrophy caused by a degenerative neuropathy of the myenteric plexus. Yoshida, M.M., Krishnamurthy, S., Wattchow, D.A., Furness, J.B., Schuffler, M.D. Gastroenterology (1988) [Pubmed]
  23. Foci of trinucleotide repeat transcripts in nuclei of myotonic dystrophy cells and tissues. Taneja, K.L., McCurrach, M., Schalling, M., Housman, D., Singer, R.H. J. Cell Biol. (1995) [Pubmed]
  24. Heterogeneity of DM kinase repeat expansion in different fetal tissues and further expansion during cell proliferation in vitro: evidence for a casual involvement of methyl-directed DNA mismatch repair in triplet repeat stability. Wöhrle, D., Kennerknecht, I., Wolf, M., Enders, H., Schwemmle, S., Steinbach, P. Hum. Mol. Genet. (1995) [Pubmed]
  25. Myotonic dystrophy: calcium-dependent phosphatidic acid synthesis in erythrocytes. Moore, R.B., Appel, S.H., Plishker, G.A. Ann. Neurol. (1981) [Pubmed]
  26. Novel isoform of myotonin protein kinase: gene product of myotonic dystrophy is localized in the sarcoplasmic reticulum of skeletal muscle. Shimokawa, M., Ishiura, S., Kameda, N., Yamamoto, M., Sasagawa, N., Saitoh, N., Sorimachi, H., Ueda, H., Ohno, S., Suzuki, K., Kobayashi, T. Am. J. Pathol. (1997) [Pubmed]
  27. Myotonic dystrophy type 2 caused by a CCTG expansion in intron 1 of ZNF9. Liquori, C.L., Ricker, K., Moseley, M.L., Jacobsen, J.F., Kress, W., Naylor, S.L., Day, J.W., Ranum, L.P. Science (2001) [Pubmed]
  28. Loss of the muscle-specific chloride channel in type 1 myotonic dystrophy due to misregulated alternative splicing. Charlet-B, N., Savkur, R.S., Singh, G., Philips, A.V., Grice, E.A., Cooper, T.A. Mol. Cell (2002) [Pubmed]
  29. Identification of transcriptional targets for Six5: implication for the pathogenesis of myotonic dystrophy type 1. Sato, S., Nakamura, M., Cho, D.H., Tapscott, S.J., Ozaki, H., Kawakami, K. Hum. Mol. Genet. (2002) [Pubmed]
  30. Myotonic dystrophy is associated with a reduced level of RNA from the DMWD allele adjacent to the expanded repeat. Alwazzan, M., Newman, E., Hamshere, M.G., Brook, J.D. Hum. Mol. Genet. (1999) [Pubmed]
  31. Somatic expansion behaviour of the (CTG)n repeat in myotonic dystrophy knock-in mice is differentially affected by Msh3 and Msh6 mismatch-repair proteins. van den Broek, W.J., Nelen, M.R., Wansink, D.G., Coerwinkel, M.M., te Riele, H., Groenen, P.J., Wieringa, B. Hum. Mol. Genet. (2002) [Pubmed]
  32. Relationship between parental trinucleotide GCT repeat length and severity of myotonic dystrophy in offspring. Redman, J.B., Fenwick, R.G., Fu, Y.H., Pizzuti, A., Caskey, C.T. JAMA (1993) [Pubmed]
  33. Somatic mosaicism, germline expansions, germline reversions and intergenerational reductions in myotonic dystrophy males: small pool PCR analyses. Monckton, D.G., Wong, L.J., Ashizawa, T., Caskey, C.T. Hum. Mol. Genet. (1995) [Pubmed]
  34. Defective satellite cells in congenital myotonic dystrophy. Furling, D., Coiffier, L., Mouly, V., Barbet, J.P., St Guily, J.L., Taneja, K., Gourdon, G., Junien, C., Butler-Browne, G.S. Hum. Mol. Genet. (2001) [Pubmed]
  35. The insulin receptor in myotonic dystrophy. Kobayashi, M., Meek, J.C., Streib, E. J. Clin. Endocrinol. Metab. (1977) [Pubmed]
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