Citations for
1CAV3, LQT9
The interaction of caveolin 3 protein with the potassium inward rectifier channel Kir2.1: physiology and pathology related to long qt syndrome 9 (LQT9).
Vaidyanathan R, Vega AL, Song C, Zhou Q, Tan BH, Berger S, Makielski JC, Eckhardt LL.
J Biol Chem 288(24):17472-80. doi: 10.1074/jbc.M112.435370. Erratum in: J Biol Chem. 2013 Oct 4;288(40):28948. Tan, Bihua [corrected to Tan, 2013
2CAV3, LGMD1C, LQT9, RMD2
Caveolinopathies: from the biology of caveolin-3 to human diseases.
Gazzerro E, Sotgia F, Bruno C, Lisanti MP, Minetti C.
Eur J Hum Genet 18(2):137-45. Epub 2009 Jul 8. Review. Erratum in: Eur J Hum Genet. 2009 Dec;17(12):1692. PMID: 19584897 2010
3CAV3, LQT9
Mutant caveolin-3 induces persistent late sodium current and is associated with long-QT syndrome.
Vatta M, Ackerman MJ, Ye B, Makielski JC, Ughanze EE, Taylor EW, Tester DJ, Balijepalli RC, Foell JD, Li Z, Kamp TJ, Towbin JA.
Circulation 114(20):2104-12. Epub 2006 Oct 23. 2006