DMD Gene

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1		Vivi Li	+ 536 word(s)	536	2020-12-15 07:50:27

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Li, V. DMD Gene. Encyclopedia. Available online: https://encyclopedia.pub/entry/4842 (accessed on 28 September 2026).

Li V. DMD Gene. Encyclopedia. Available at: https://encyclopedia.pub/entry/4842. Accessed September 28, 2026.

Li, Vivi. "DMD Gene" Encyclopedia, https://encyclopedia.pub/entry/4842 (accessed September 28, 2026).

Li, V. (2020, December 24). DMD Gene. In Encyclopedia. https://encyclopedia.pub/entry/4842

Li, Vivi. "DMD Gene." Encyclopedia. Web. 24 December, 2020.

DMD Gene

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This entry is adapted from the peer-reviewed paper https://medlineplus.gov/genetics/gene/dmd

Dystrophin: DMD, the largest known human gene, provides instructions for making a protein called dystrophin.

genes

References

Aartsma-Rus A, Van Deutekom JC, Fokkema IF, Van Ommen GJ, Den Dunnen JT.Entries in the Leiden Duchenne muscular dystrophy mutation database: an overview of mutation types and paradoxical cases that confirm the reading-frame rule.Muscle Nerve. 2006 Aug;34(2):135-44. Review.
Anderson JL, Head SI, Rae C, Morley JW. Brain function in Duchenne musculardystrophy. Brain. 2002 Jan;125(Pt 1):4-13. Review.
Biggar WD, Klamut HJ, Demacio PC, Stevens DJ, Ray PN. Duchenne musculardystrophy: current knowledge, treatment, and future prospects. Clin Orthop Relat Res. 2002 Aug;(401):88-106. Review.
Cohen N, Muntoni F. Multiple pathogenetic mechanisms in X linked dilatedcardiomyopathy. Heart. 2004 Aug;90(8):835-41. Review.
Darras BT, Urion DK, Ghosh PS. Dystrophinopathies. 2000 Sep 5 [updated 2018Apr 26]. In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K,Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University ofWashington, Seattle; 1993-2020. Available fromhttp://www.ncbi.nlm.nih.gov/books/NBK1119/
Ehmsen J, Poon E, Davies K. The dystrophin-associated protein complex. J Cell Sci. 2002 Jul 15;115(Pt 14):2801-3. Review.
Ervasti JM. Dystrophin, its interactions with other proteins, and implicationsfor muscular dystrophy. Biochim Biophys Acta. 2007 Feb;1772(2):108-17.
Ferlini A, Sewry C, Melis MA, Mateddu A, Muntoni F. X-linked dilatedcardiomyopathy and the dystrophin gene. Neuromuscul Disord. 1999 Jul;9(5):339-46.Review.
Le Rumeur E, Winder SJ, Hubert JF. Dystrophin: more than just the sum of itsparts. Biochim Biophys Acta. 2010 Sep;1804(9):1713-22. doi:10.1016/j.bbapap.2010.05.001.
Muntoni F, Torelli S, Ferlini A. Dystrophin and mutations: one gene, severalproteins, multiple phenotypes. Lancet Neurol. 2003 Dec;2(12):731-40. Review.
Nakamura A. X-Linked Dilated Cardiomyopathy: A Cardiospecific Phenotype ofDystrophinopathy. Pharmaceuticals (Basel). 2015 Jun 9;8(2):303-20. doi:10.3390/ph8020303. Review.
Neri M, Valli E, Alfano G, Bovolenta M, Spitali P, Rapezzi C, Muntoni F, BanfiS, Perini G, Gualandi F, Ferlini A. The absence of dystrophin brain isoformexpression in healthy human heart ventricles explains the pathogenesis of 5'X-linked dilated cardiomyopathy. BMC Med Genet. 2012 Mar 28;13:20. doi:10.1186/1471-2350-13-20.

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Subjects: Genetics & Heredity

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Entry Collection: MedlinePlus

Update Date: 24 Dec 2020

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