Nemaline Myopathy

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Xu, R. Nemaline Myopathy. Encyclopedia. Available online: https://encyclopedia.pub/entry/4495 (accessed on 25 September 2026).

Xu R. Nemaline Myopathy. Encyclopedia. Available at: https://encyclopedia.pub/entry/4495. Accessed September 25, 2026.

Xu, Rita. "Nemaline Myopathy" Encyclopedia, https://encyclopedia.pub/entry/4495 (accessed September 25, 2026).

Xu, R. (2020, December 23). Nemaline Myopathy. In Encyclopedia. https://encyclopedia.pub/entry/4495

Xu, Rita. "Nemaline Myopathy." Encyclopedia. Web. 23 December, 2020.

Nemaline Myopathy

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

Nemaline myopathy is a disorder that primarily affects skeletal muscles, which are muscles that the body uses for movement. People with nemaline myopathy have muscle weakness (myopathy) throughout the body, but it is typically most severe in the muscles of the face; neck; trunk; and other muscles close to the center of the body (proximal muscles), such as those of the upper arms and legs.

genetic conditions

References

Lehtokari VL, Pelin K, Sandbacka M, Ranta S, Donner K, Muntoni F, Sewry C,Angelini C, Bushby K, Van den Bergh P, Iannaccone S, Laing NG,Wallgren-Pettersson C. Identification of 45 novel mutations in the nebulin geneassociated with autosomal recessive nemaline myopathy. Hum Mutat. 2006Sep;27(9):946-56.
Nowak KJ, Sewry CA, Navarro C, Squier W, Reina C, Ricoy JR, Jayawant SS,Childs AM, Dobbie JA, Appleton RE, Mountford RC, Walker KR, Clement S, Barois A, Muntoni F, Romero NB, Laing NG. Nemaline myopathy caused by absence ofalpha-skeletal muscle actin. Ann Neurol. 2007 Feb;61(2):175-84.
Ottenheijm CA, Hooijman P, DeChene ET, Stienen GJ, Beggs AH, Granzier H.Altered myofilament function depresses force generation in patients withnebulin-based nemaline myopathy (NEM2). J Struct Biol. 2010 May;170(2):334-43.doi: 10.1016/j.jsb.2009.11.013.
Romero NB, Sandaradura SA, Clarke NF. Recent advances in nemaline myopathy.Curr Opin Neurol. 2013 Oct;26(5):519-26. doi: 10.1097/WCO.0b013e328364d681.Review.
Ryan MM, Schnell C, Strickland CD, Shield LK, Morgan G, Iannaccone ST, LaingNG, Beggs AH, North KN. Nemaline myopathy: a clinical study of 143 cases. AnnNeurol. 2001 Sep;50(3):312-20. Review.
Wallgren-Pettersson C, Sewry CA, Nowak KJ, Laing NG. Nemaline myopathies.Semin Pediatr Neurol. 2011 Dec;18(4):230-8. doi: 10.1016/j.spen.2011.10.004.Review.
Yin X, Pu CQ, Wang Q, Liu JX, Mao YL. Clinical and pathological features ofpatients with nemaline myopathy. Mol Med Rep. 2014 Jul;10(1):175-82. doi:10.3892/mmr.2014.2184.

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Subjects: Genetics & Heredity

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Update Date: 23 Dec 2020

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