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Publicado el 1 de abril de 2005 | http://doi.org/10.5867/medwave.2005.03.3370

Distrofia miotónica: aspectos genéticos

Myotonic dystrophy: genetic aspects

Lisette Meza G., Catalina Mora L., Daniela Muñoz B.

Esta obra de Medwave está bajo una licencia Creative Commons Atribución-NoComercial 3.0 Unported. Esta licencia permite el uso, distribución y reproducción del artículo en cualquier medio, siempre y cuando se otorgue el crédito correspondiente al autor del artículo y al medio en que se publica, en este caso, Medwave.

Autores

Lisette Meza G.

Estudiantes de segundo año de Medicina, Universidad de Chile, Santiago, Chile

Catalina Mora L.

Estudiantes de segundo año de Medicina, Universidad de Chile, Santiago, Chile

Daniela Muñoz B.

Estudiantes de segundo año de Medicina, Universidad de Chile, Santiago, Chile

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Citación Meza G. L, Mora L. C, Muñoz B. D. Myotonic dystrophy: genetic aspects. Medwave 2005;5(03):e3370 doi: 10.5867/medwave.2005.03.3370

Envío 01/01/1970

Aceptación 01/01/1970

Publicación 01/04/2005

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Referencias

  1. Reardon W, Harley HG, Brook JD, Rundle SA, Crow S, Harper PS, et al. Minimal expression of myotonic dystrophy: a clinical and molecular analysis. J Med Genet. 1992 Nov;29(11):770-3. | CrossRef | PubMed
  2. Olsen N.K. Myotonic Dystophy. Genetic, neonatologic and neuropsychological aspects. Ugeskr Laeger. 1989 Dec 4;151(49):3300-3. | PubMed
  3. Nesterov LN, Sushcheva GP, Viatkina SIa, Nesterova IM. Myotonic Dystrophy. Zh Nevropatol Psikhiatr Im S S Korsakova. 1983;83(11):1636-41. | PubMed
  4. Ashizawa T, Dubel JR, Dunne PW, Dunne CJ, Fu YH, Pizzuti A, et al. Anticipation in myotonic dystrophy: II. Complex relationships between clinical findings and structure of the CTG repeat. Neurology, 1992; 42: 1877-1883. | PubMed
  5. Wang YH, Amirhaeri S, Kang S, Wells RD, Griffith JD. Preferential nucleosome assembly at DNA triplet repeats from the myotonic dystrophy gene. Science. 1994 Jul 29;265(5172):669-71. | CrossRef | PubMed
  6. Alwazzan M, Newman E, Hamshere M.G, Brook J.D. Myotonic dystrophy is associated with a reduced level of RNA from the DMWD allele adjacent to the expanded repeat. Hum Mol Genet, 1999 Aug; 8 (8):1491-1497. | CrossRef | PubMed
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  8. Ladd A.N, Charlet N, Cooper T.A. The CELF family of RNA binding proteins is implicated in cell-specific and developmentally regulated alternative splicing. Mol Cell Biol, 2001 Feb; 21(4):1285-1296. | CrossRef | PubMed
  9. Dunne PW, Ma L, Casey DL, Harati Y, Epstein HF. Localization of myotonic dystrophy protein kinase in skeletal muscle and its alteration with disease. Cell Motil Cytoskeleton. 1996;33(1):52-63. | CrossRef | PubMed
  10. Shimokawa M, Ishiura S, Kameda N, Yamamoto M, Sasagawa N, Saitoh N, et al. Novel isoform of myotonin protein kinase gene product of myotonic dystrophy is localized in the sarcoplasmic reticulum of skeletal muscle. Am J Pathol. 1997 Apr;150(4):1285-95. | PubMed
  11. Wansink DG, van Herpen RE, Coerwinkel-Driessen MM, Groenen PJ, Hemmings BA, Wieringa B. Alternative splicing controls myotonic dystrophy protein kinase structure, enzymatic activity, and subcellular localization. Mol Cell Biol. 2003 Aug;23(16):5489-501. | CrossRef | PubMed
  12. Savkur RS, Philips AV, Cooper TA. Aberrant regulation of insulin receptor alternative splicing is associated with insulin resistance in myotonic dystrophy. Nat Genet. 2001 Sep;29(1):40-7. | CrossRef | PubMed
  13. Philips AV, Timchenko LT, Cooper TA. Disruption of splicing regulated by a CUG-binding protein in myotonic dystrophy. Science. 1998 May 1;280(5364):737-41. | CrossRef | PubMed
  14. Furling D, Lemieux D, Taneja K, Puymirat J. Decreased levels of myotonic dystrophy protein kinase (DMPK) and delayed differentiation in human myotonic dystrophy myoblasts. Neuromuscul Disord. 2001 Nov;11(8):728-35. | CrossRef | PubMed
  15. Davis BM, McCurrach ME, Taneja KL, Singer RH, Housman DE. Expansion of a CUG trinucleotide repeat in the 3' untranslated region of myotonic dystrophy protein kinase transcripts results in nuclear retention of transcripts. Proc Natl Acad Sci U S A. 1997 Jul 8;94(14):7388-93. | CrossRef | PubMed