Myotonic Dystrophy

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Xu, R. Myotonic Dystrophy. Encyclopedia. Available online: https://encyclopedia.pub/entry/4438 (accessed on 27 September 2026).

Xu R. Myotonic Dystrophy. Encyclopedia. Available at: https://encyclopedia.pub/entry/4438. Accessed September 27, 2026.

Xu, Rita. "Myotonic Dystrophy" Encyclopedia, https://encyclopedia.pub/entry/4438 (accessed September 27, 2026).

Xu, R. (2020, December 23). Myotonic Dystrophy. In Encyclopedia. https://encyclopedia.pub/entry/4438

Xu, Rita. "Myotonic Dystrophy." Encyclopedia. Web. 23 December, 2020.

Myotonic Dystrophy

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This entry is adapted from the peer-reviewed paper https://medlineplus.gov/genetics/condition/myotonic-dystrophy

Myotonic dystrophy is part of a group of inherited disorders called muscular dystrophies. It is the most common form of muscular dystrophy that begins in adulthood.

genetic conditions

References

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/
Day JW, Ricker K, Jacobsen JF, Rasmussen LJ, Dick KA, Kress W, Schneider C,Koch MC, Beilman GJ, Harrison AR, Dalton JC, Ranum LP. Myotonic dystrophy type 2:molecular, diagnostic and clinical spectrum. Neurology. 2003 Feb 25;60(4):657-64.
Ebralidze A, Wang Y, Petkova V, Ebralidse K, Junghans RP. RNA leaching oftranscription factors disrupts transcription in myotonic dystrophy. Science. 2004Jan 16;303(5656):383-7.
Liquori CL, Ricker K, Moseley ML, Jacobsen JF, Kress W, Naylor SL, Day JW,Ranum LP. Myotonic dystrophy type 2 caused by a CCTG expansion in intron 1 ofZNF9. Science. 2001 Aug 3;293(5531):864-7.
Machuca-Tzili L, Brook D, Hilton-Jones D. Clinical and molecular aspects ofthe myotonic dystrophies: a review. Muscle Nerve. 2005 Jul;32(1):1-18. Review.
Meola G, Cardani R. Myotonic dystrophies: An update on clinical aspects,genetic, pathology, and molecular pathomechanisms. Biochim Biophys Acta. 2015Apr;1852(4):594-606. doi: 10.1016/j.bbadis.2014.05.019.
Ranum LP, Day JW. Myotonic dystrophy: RNA pathogenesis comes into focus. Am J Hum Genet. 2004 May;74(5):793-804.
Schoser B. Myotonic Dystrophy Type 2. 2006 Sep 21 [updated 2020 Mar 19]. 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/NBK1466/
Thomas JD, Oliveira R, Sznajder ŁJ, Swanson MS. Myotonic Dystrophy andDevelopmental Regulation of RNA Processing. Compr Physiol. 2018 Mar25;8(2):509-553. doi: 10.1002/cphy.c170002. Review.
Udd B, Meola G, Krahe R, Thornton C, Ranum LP, Bassez G, Kress W, Schoser B,Moxley R. 140th ENMC International Workshop: Myotonic Dystrophy DM2/PROMM andother myotonic dystrophies with guidelines on management. Neuromuscul Disord.2006 Jun;16(6):403-13.
Wheeler TM, Thornton CA. Myotonic dystrophy: RNA-mediated muscle disease. CurrOpin Neurol. 2007 Oct;20(5):572-6. Review.

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Subjects: Genetics & Heredity

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Entry Collection: MedlinePlus

Update Date: 23 Dec 2020

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