Isolated hyperCKemia
Última actualización 21 Feb 2023
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Isolated hyperCKemia is a condition characterised by elevated levels of an enzyme called creatine kinase in the blood. In affected individuals, levels of this enzyme are typically 3 to 10 times higher than normal. While elevated creatine kinase often accompanies various muscle diseases, individuals with isolated hyperCKemia have no muscle weakness or other symptoms. Some people with this condition have abnormalities of muscle cells that can be seen with a microscope, such as unusual variability in the size of muscle fibers, but these changes do not affect the function of the muscle.
Descripción
Isolated hyperCKemia is a condition characterised by elevated levels of an enzyme called creatine kinase in the blood. In affected individuals, levels of this enzyme are typically 3 to 10 times higher than normal. While elevated creatine kinase often accompanies various muscle diseases, individuals with isolated hyperCKemia have no muscle weakness or other symptoms. Some people with this condition have abnormalities of muscle cells that can be seen with a microscope, such as unusual variability in the size of muscle fibers, but these changes do not affect the function of the muscle.
Patrones de herencia
The source lists the following possible inheritance patterns: Autosomal dominant. More than one pattern can apply in different cases.
Related genes
Otros nombres
Elevated serum CPK
Elevated serum creatine phosphokinase
H-CK
Idiopathic hyperCKemia
Idiopathic persistent elevation of serum creatine kinase
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Lecturas adicionales y referencias
- Isolated hyperCKemia; MedlinePlus, National Library of Medicine.
- Aboumousa A, Hoogendijk J, Charlton R, Barresi R, Herrmann R, Voit T, Hudson J, Roberts M, Hilton-Jones D, Eagle M, Bushby K, Straub V. Caveolinopathy--new mutations and additional symptoms. Neuromuscul Disord. 2008 Jul;18(7):572-8. doi: 10.1016/j.nmd.2008.05.003. Epub 2008 Jun 25.
- Alias L, Gallano P, Moreno D, Pujol R, Martinez-Matos JA, Baiget M, Ferrer I, Olive M. A novel mutation in the caveolin-3 gene causing familial isolated hyperCKaemia. Neuromuscul Disord. 2004 May;14(5):321-4. doi: 10.1016/j.nmd.2004.01.006.
- 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 causes partial caveolin-3 deficiency and hyperCKemia. Neurology. 2000 Mar 28;54(6):1373-6. doi: 10.1212/wnl.54.6.1373.
- Gazzerro E, Bonetto A, Minetti C. Caveolinopathies: translational implications of 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.
- Gazzerro E, Sotgia F, Bruno C, Lisanti MP, Minetti C. Caveolinopathies: from the biology of caveolin-3 to human diseases. Eur J Hum Genet. 2010 Feb;18(2):137-45. doi: 10.1038/ejhg.2009.103. Epub 2009 Jul 8.
- 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. doi: 10.1212/wnl.62.4.538.
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