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