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2012, Número 1

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Ann Hepatol 2012; 11 (1)


Abnormal liver function tests in a patient with myotonic dystrophy type 1

Kalafateli M, Triantos C, Tsamandas A, Kounadis G, Labropoulou-Karatza C
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Idioma: Ingles.
Referencias bibliográficas: 20
Paginas: 130-133
Archivo PDF: 127.99 Kb.


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REFERENCIAS (EN ESTE ARTÍCULO)

  1. Ronnemaa T, Alaranta H, Viikari J, Tilvis R, Falck B. Increased activity of serum gamma-glutamyltransferase in myotonic dystrophy. Acta Med Scand 1987; 222: 267-73.

  2. Achiron A, Barak Y, Magal N, et al. Abnormal liver tests results in myotonic dystrophy. J Clin Gastroenterol 1998; 26: 292-95.

  3. Heatwole C, Miller J, Martens B, Moxley R. Laboratoty abnormalities in ambulatory patients with myotonic dystrophy type 1. Arch Neurol 2006; 63: 1149-53.

  4. Siciliano G, Pasquali L, Rocchi A, et al. Advanced oxidation protein products in serum of patients with myotonic disease type 2: association with serum gamma-glutamyltransferase and disease severity. Clin Chem Lab Med 2005; 43: 745-7.

  5. Syn WK, Palejwala AA. Anicteric cholostasis: an unusual presentation of myotonic dystrophy. Intern Med J 2009; 39: 206-7.

  6. Brook JD, McCurrach ME, Harley HG, et al. Molecular basis of myotonic dystrophy: expansion of a trinucleotide (CTG) repeat at the 3' end of a transcript encoding a protein kinase family member. Cell 1992; 69: 385.

  7. Buxton J, Shelbourne P, Davies J, et al. Detection of an unstable fragment of DNA specific to individuals with myotonic dystrophy. Nature 1992; 355: 547.

  8. Fu YH, Pizzuti A, Fenwick RG, et al. An unstable triplet repeat in a gene related to myotonic muscular dystrophy. Science 1992; 255: 1256.

  9. Harley HG, Brook JD, Rundle SA, et al. Expansion of an unstable DNA region and phenotypic variation in myotonic dystrophy. Nature 1992; 355: 545.

  10. Mahadevan M, Tsilfidis C, Sabourin L, et al. Myotonic dystrophy mutation: an unstable CTG repeat in the 3’ untranslated region of the gene. Science 1992; 255: 1253.

  11. Liquori CL, Ricker K, Moseley ML, et al. Myotonic dystrophy type 2 caused by a CCTG expansion in intron 1 of ZNF9. Science 2001; 293: 864.

  12. Cho DH, Tapscott SJ. Myotonic dystrophy: emerging mechanisms for DM1 and DM2. Biochim Biophys Acta 2007; 1772: 195.

  13. Lee JE, Cooper TA. Pathogenic mechanisms of myotonic dystrophy. Biochem Soc Trans 2009; 37: 1281.

  14. Charlet-BN, Savkur RS, Singh G, Philips AV, Grice EA, Cooper TA. Loss of the muscle-specific chloride channel in type 1 myotonic dystrophy due to misregulated alternative splicing. Mol Cell 2002; 10: 45-53.

  15. Savkur RS, Philips AV, Cooper TA. Aberrant regulation of insulin receptor alternative splicing is associated with insulin resistance in myotonic dystrophy. Nat Genet 2001; 29: 40-7.

  16. Philips AV, Timchenko LT, Cooper TA. Disruption of splicing regulated by a CUG-binding protein in myotonic dystrophy. Science 1998; 280: 737.

  17. Ronnblom A, Forsberg H, Danielsson A. Gastrointestinal symptoms in myotonic dystrophy. Scand J Gastroenterol 1996; 31: 654.

  18. Roses AD, Appel SH. Muscle membrane protein kinase in myotonic muscular dystrophy. Nature 1974; 250: 245-47.

  19. Hunter T. Protein kinase classification. Methods Enzymol 1991; 200: 3-37.

  20. Paolicchi A, Minotti G, Tonarelli P, et al. Gamma-glutamyl transpeptidase-dependent iron reduction and LDL oxidation- a potential mechanism in atherosclerosis. J Investig Med 1999; 47: 151-60.




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