Genes > DMPK >

References

These sources were used to develop the Genetics Home Reference gene summary on the DMPK gene.

Botta A, Rinaldi F, Catalli C, Vergani L, Bonifazi E, Romeo V, Loro E, Viola A, Angelini C, Novelli G. The CTG repeat expansion size correlates with the splicing defects observed in muscles from myotonic dystrophy type 1 patients. J Med Genet. 2008 Oct;45(10):639-46. doi: 10.1136/jmg.2008.058909. Epub 2008 Jul 8. PubMed citation
Cho DH, Tapscott SJ. Myotonic dystrophy: emerging mechanisms for DM1 and DM2. Biochim Biophys Acta. 2007 Feb;1772(2):195-204. Epub 2006 Jun 20. Review. PubMed citation
Day JW, Ranum LP. RNA pathogenesis of the myotonic dystrophies. Neuromuscul Disord. 2005 Jan;15(1):5-16. Epub 2004 Nov 26. Review. PubMed citation
Ebralidze A, Wang Y, Petkova V, Ebralidse K, Junghans RP. RNA leaching of transcription factors disrupts transcription in myotonic dystrophy. Science. 2004 Jan 16;303(5656):383-7. Epub 2003 Dec 4. PubMed citation
Entrez Gene
Fardaei M, Rogers MT, Thorpe HM, Larkin K, Hamshere MG, Harper PS, Brook JD. Three proteins, MBNL, MBLL and MBXL, co-localize in vivo with nuclear foci of expanded-repeat transcripts in DM1 and DM2 cells. Hum Mol Genet. 2002 Apr 1;11(7):805-14. PubMed citation
Gene Review: Myotonic Dystrophy Type 1
Kaliman P, Llagostera E. Myotonic dystrophy protein kinase (DMPK) and its role in the pathogenesis of myotonic dystrophy 1. Cell Signal. 2008 Nov;20(11):1935-41. doi: 10.1016/j.cellsig.2008.05.005. Epub 2008 May 18. Review. PubMed citation
Machuca-Tzili L, Brook D, Hilton-Jones D. Clinical and molecular aspects of the myotonic dystrophies: a review. Muscle Nerve. 2005 Jul;32(1):1-18. Review. PubMed citation
Ranum LP, Day JW. Myotonic dystrophy: RNA pathogenesis comes into focus. Am J Hum Genet. 2004 May;74(5):793-804. Epub 2004 Apr 2. Review. PubMed citation
Salvatori S, Fanin M, Trevisan CP, Furlan S, Reddy S, Nagy JI, Angelini C. Decreased expression of DMPK: correlation with CTG repeat expansion and fibre type composition in myotonic dystrophy type 1. Neurol Sci. 2005 Oct;26(4):235-42. PubMed citation
Ueda H, Ohno S, Kobayashi T. Myotonic dystrophy and myotonic dystrophy protein kinase. Prog Histochem Cytochem. 2000;35(3):187-251. Review. PubMed citation


		About Site Map Contact Us
	A service of the U.S. National Library of Medicine®
Home Conditions Genes Chromosomes Handbook Glossary Resources