Cap Myopathy

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Yang, C. Cap Myopathy. Encyclopedia. Available online: https://encyclopedia.pub/entry/5146 (accessed on 22 September 2026).

Yang C. Cap Myopathy. Encyclopedia. Available at: https://encyclopedia.pub/entry/5146. Accessed September 22, 2026.

Yang, Catherine. "Cap Myopathy" Encyclopedia, https://encyclopedia.pub/entry/5146 (accessed September 22, 2026).

Yang, C. (2020, December 24). Cap Myopathy. In Encyclopedia. https://encyclopedia.pub/entry/5146

Yang, Catherine. "Cap Myopathy." Encyclopedia. Web. 24 December, 2020.

Cap Myopathy

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

Cap myopathy is a disorder that primarily affects skeletal muscles, which are muscles that the body uses for movement. People with cap myopathy have muscle weakness (myopathy) and poor muscle tone (hypotonia) throughout the body, but they are most severely affected in the muscles of the face, neck, and limbs. The muscle weakness, which begins at birth or during childhood, can worsen over time.

genetic conditions

References

Clarke NF, Domazetovska A, Waddell L, Kornberg A, McLean C, North KN. Capdisease due to mutation of the beta-tropomyosin gene (TPM2). Neuromuscul Disord. 2009 May;19(5):348-51. doi: 10.1016/j.nmd.2009.03.003.
De Paula AM, Franques J, Fernandez C, Monnier N, Lunardi J, Pellissier JF,Figarella-Branger D, Pouget J. A TPM3 mutation causing cap myopathy. Neuromuscul Disord. 2009 Oct;19(10):685-8. doi: 10.1016/j.nmd.2009.06.365.
Goebel HH. Cap disease uncapped. Neuromuscul Disord. 2007 Jun;17(6):429-32.
Hung RM, Yoon G, Hawkins CE, Halliday W, Biggar D, Vajsar J. Cap myopathycaused by a mutation of the skeletal alpha-actin gene ACTA1. Neuromuscul Disord. 2010 Apr;20(4):238-40. doi: 10.1016/j.nmd.2010.01.011.in: Neuromuscul Disord.2010 Aug;20(8):567.
Lehtokari VL, Ceuterick-de Groote C, de Jonghe P, Marttila M, Laing NG, Pelin K, Wallgren-Pettersson C. Cap disease caused by heterozygous deletion of thebeta-tropomyosin gene TPM2. Neuromuscul Disord. 2007 Jun;17(6):433-42.
Marttila M, Lemola E, Wallefeld W, Memo M, Donner K, Laing NG, Marston S,Grönholm M, Wallgren-Pettersson C. Abnormal actin binding of aberrantβ-tropomyosins is a molecular cause of muscle weakness in TPM2-related nemalineand cap myopathy. Biochem J. 2012 Feb 15;442(1):231-9. doi: 10.1042/BJ20111030.
Ochala J. Thin filament proteins mutations associated with skeletalmyopathies: defective regulation of muscle contraction. J Mol Med (Berl). 2008Nov;86(11):1197-204. doi: 10.1007/s00109-008-0380-9.
Ohlsson M, Quijano-Roy S, Darin N, Brochier G, Lacène E, Avila-Smirnow D,Fardeau M, Oldfors A, Tajsharghi H. New morphologic and genetic findings in capdisease associated with beta-tropomyosin (TPM2) mutations. Neurology. 2008 Dec2;71(23):1896-901. doi: 10.1212/01.wnl.0000336654.44814.b8.
Waddell LB, Kreissl M, Kornberg A, Kennedy P, McLean C, Labarre-Vila A,Monnier N, North KN, Clarke NF. Evidence for a dominant negative diseasemechanism in cap myopathy due to TPM3. Neuromuscul Disord. 2010 Jul;20(7):464-6. doi: 10.1016/j.nmd.2010.05.012.

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Subjects: Genetics & Heredity

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Update Date: 24 Dec 2020

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