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Li, V. DMPK Gene. Encyclopedia. Available online: https://encyclopedia.pub/entry/4847 (accessed on 26 September 2026).
Li V. DMPK Gene. Encyclopedia. Available at: https://encyclopedia.pub/entry/4847. Accessed September 26, 2026.
Li, Vivi. "DMPK Gene" Encyclopedia, https://encyclopedia.pub/entry/4847 (accessed September 26, 2026).
Li, V. (2020, December 24). DMPK Gene. In Encyclopedia. https://encyclopedia.pub/entry/4847
Li, Vivi. "DMPK Gene." Encyclopedia. Web. 24 December, 2020.
DMPK Gene
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This entry is adapted from the peer-reviewed paper https://medlineplus.gov/genetics/gene/dmpk

DM1 Protein Kinase: The DMPK gene provides instructions for making a protein called myotonic dystrophy protein kinase. 

genes

References

  1. Bird TD. Myotonic Dystrophy Type 1. 1999 Sep 17 [updated 2020 Oct 29]. In:Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A,editors. GeneReviews® [Internet]. Seattle (WA): University of Washington,Seattle; 1993-2020. Available from http://www.ncbi.nlm.nih.gov/books/NBK1165/
  2. Botta A, Rinaldi F, Catalli C, Vergani L, Bonifazi E, Romeo V, Loro E, ViolaA, Angelini C, Novelli G. The CTG repeat expansion size correlates with thesplicing defects observed in muscles from myotonic dystrophy type 1 patients. JMed Genet. 2008 Oct;45(10):639-46. doi: 10.1136/jmg.2008.058909.
  3. Cho DH, Tapscott SJ. Myotonic dystrophy: emerging mechanisms for DM1 and DM2. Biochim Biophys Acta. 2007 Feb;1772(2):195-204.
  4. Kaliman P, Llagostera E. Myotonic dystrophy protein kinase (DMPK) and its rolein the pathogenesis of myotonic dystrophy 1. Cell Signal. 2008Nov;20(11):1935-41. doi: 10.1016/j.cellsig.2008.05.005.
  5. Overend G, Légaré C, Mathieu J, Bouchard L, Gagnon C, Monckton DG. Allelelength of the DMPK CTG repeat is a predictor of progressive myotonic dystrophytype 1 phenotypes. Hum Mol Genet. 2019 Jul 1;28(13):2245-2254. doi:10.1093/hmg/ddz055.
  6. Ranum LP, Day JW. Myotonic dystrophy: RNA pathogenesis comes into focus. Am J Hum Genet. 2004 May;74(5):793-804.
  7. Salvatori S, Fanin M, Trevisan CP, Furlan S, Reddy S, Nagy JI, Angelini C.Decreased expression of DMPK: correlation with CTG repeat expansion and fibretype composition in myotonic dystrophy type 1. Neurol Sci. 2005 Oct;26(4):235-42.
  8. Santoro M, Masciullo M, Silvestri G, Novelli G, Botta A. Myotonic dystrophytype 1: role of CCG, CTC and CGG interruptions within DMPK alleles in thepathogenesis and molecular diagnosis. Clin Genet. 2017 Oct;92(4):355-364. doi:10.1111/cge.12954.
  9. Ueda H, Ohno S, Kobayashi T. Myotonic dystrophy and myotonic dystrophy proteinkinase. Prog Histochem Cytochem. 2000;35(3):187-251. Review.
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Subjects: Genetics & Heredity
Contributor MDPI registered users' name will be linked to their SciProfiles pages. To register with us, please refer to https://encyclopedia.pub/register : Vivi Li
View Times: 994
Entry Collection: MedlinePlus
Revision: 1 time (View History)
Update Date: 24 Dec 2020
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