CAV3 Gene

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Zhou, V. CAV3 Gene. Encyclopedia. Available online: https://encyclopedia.pub/entry/5076 (accessed on 22 September 2026).

Zhou V. CAV3 Gene. Encyclopedia. Available at: https://encyclopedia.pub/entry/5076. Accessed September 22, 2026.

Zhou, Vicky. "CAV3 Gene" Encyclopedia, https://encyclopedia.pub/entry/5076 (accessed September 22, 2026).

Zhou, V. (2020, December 24). CAV3 Gene. In Encyclopedia. https://encyclopedia.pub/entry/5076

Zhou, Vicky. "CAV3 Gene." Encyclopedia. Web. 24 December, 2020.

CAV3 Gene

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This entry is adapted from the peer-reviewed paper https://medlineplus.gov/genetics/gene/cav3

caveolin 3

genes

References

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.
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.
Balijepalli RC, Kamp TJ. Caveolae, ion channels and cardiac arrhythmias. Prog Biophys Mol Biol. 2008 Oct-Nov;98(2-3):149-60. doi:10.1016/j.pbiomolbio.2009.01.012.
Catteruccia M, Sanna T, Santorelli FM, Tessa A, Di Giacopo R, Sauchelli D,Verbo A, Lo Monaco M, Servidei S. Rippling muscle disease and cardiomyopathyassociated with a mutation in the CAV3 gene. Neuromuscul Disord. 2009Nov;19(11):779-83. doi: 10.1016/j.nmd.2009.08.015.
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.
Tateyama M, Aoki M, Nishino I, Hayashi YK, Sekiguchi S, Shiga Y, Takahashi T, Onodera Y, Haginoya K, Kobayashi K, Iinuma K, Nonaka I, Arahata K, Itoyama Y.Mutation in the caveolin-3 gene causes a peculiar form of distal myopathy.Neurology. 2002 Jan 22;58(2):323-5. Erratum in: Neurology 2002 Mar 12;58(5):839. Itoyoma Y [corrected to Itoyama Y].
Traverso M, Bruno C, Broccolini A, Sotgia F, Donati MA, Assereto S, GazzerroE, Lo Monaco M, Modoni A, D'Amico A, Gasperini S, Ricci E, Zara F, Lisanti M,Minetti C. Truncation of Caveolin-3 causes autosomal-recessive Rippling MuscleDisease. J Neurol Neurosurg Psychiatry. 2008 Jun;79(6):735-7. doi:10.1136/jnnp.2007.133207.
Ullrich ND, Fischer D, Kornblum C, Walter MC, Niggli E, Zorzato F, Treves S.Alterations of excitation-contraction coupling and excitation coupled Ca(2+)entry in human myotubes carrying CAV3 mutations linked to rippling muscle. HumMutat. 2011 Mar;32(3):309-17. doi: 10.1002/humu.21431.
Vatta M, Ackerman MJ, Ye B, Makielski JC, Ughanze EE, Taylor EW, Tester DJ,Balijepalli RC, Foell JD, Li Z, Kamp TJ, Towbin JA. Mutant caveolin-3 inducespersistent late sodium current and is associated with long-QT syndrome.Circulation. 2006 Nov 14;114(20):2104-12.

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