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Xu, C. Isolated HyperCKemia. Encyclopedia. Available online: https://encyclopedia.pub/entry/4200 (accessed on 28 September 2026).
Xu C. Isolated HyperCKemia. Encyclopedia. Available at: https://encyclopedia.pub/entry/4200. Accessed September 28, 2026.
Xu, Camila. "Isolated HyperCKemia" Encyclopedia, https://encyclopedia.pub/entry/4200 (accessed September 28, 2026).
Xu, C. (2020, December 23). Isolated HyperCKemia. In Encyclopedia. https://encyclopedia.pub/entry/4200
Xu, Camila. "Isolated HyperCKemia." Encyclopedia. Web. 23 December, 2020.
Isolated HyperCKemia
Edit

Isolated hyperCKemia is a condition characterized by elevated levels of an enzyme called creatine kinase in the blood.

genetic conditions

References

  1. Aboumousa A, Hoogendijk J, Charlton R, Barresi R, Herrmann R, Voit T, HudsonJ, Roberts M, Hilton-Jones D, Eagle M, Bushby K, Straub V. Caveolinopathy--newmutations and additional symptoms. Neuromuscul Disord. 2008 Jul;18(7):572-8. doi:10.1016/j.nmd.2008.05.003.
  2. Alias L, Gallano P, Moreno D, Pujol R, Martínez-Matos JA, Baiget M, Ferrer I, Olivé M. A novel mutation in the caveolin-3 gene causing familial isolatedhyperCKaemia. Neuromuscul Disord. 2004 May;14(5):321-4.
  3. Carbone I, Bruno C, Sotgia F, Bado M, Broda P, Masetti E, Panella A, Zara F,Bricarelli FD, Cordone G, Lisanti MP, Minetti C. Mutation in the CAV3 gene causespartial caveolin-3 deficiency and hyperCKemia. Neurology. 2000 Mar28;54(6):1373-6.
  4. Gazzerro E, Bonetto A, Minetti C. Caveolinopathies: translational implicationsof caveolin-3 in skeletal and cardiac muscle disorders. Handb Clin Neurol.2011;101:135-42. doi: 10.1016/B978-0-08-045031-5.00010-4. Review.
  5. Gazzerro E, Sotgia F, Bruno C, Lisanti MP, Minetti C. Caveolinopathies: fromthe biology of caveolin-3 to human diseases. Eur J Hum Genet. 2010Feb;18(2):137-45. doi: 10.1038/ejhg.2009.103.in: Eur J Hum Genet. 2009 Dec;17(12):1692.
  6. Woodman SE, Sotgia F, Galbiati F, Minetti C, Lisanti MP. Caveolinopathies:mutations in caveolin-3 cause four distinct autosomal dominant muscle diseases.Neurology. 2004 Feb 24;62(4):538-43. Review.
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Update Date: 23 Dec 2020
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