| 1 | CALM1, CALM2, CALM3, LQT14, LQT15, LQT16
|
| A Precision Medicine Approach to the Rescue of Function on Malignant Calmodulinopathic Long-QT Syndrome.
|
| Limpitikul WB, Dick IE, Tester DJ, Boczek NJ, Limphong P, Yang W, Choi MH, Babich J, DiSilvestre D, Kanter RJ, Tomaselli GF, Ackerman MJ, Yue DT.
|
| Circ Res 120(1):39-48. doi: 10.1161/CIRCRESAHA.116.309283. Epub 2016 Oct 20.
2017
|
| 2 | CALM1, CALM2, CALM3, LQT14, LQT15, LQT16
|
| Novel CALM3 mutations in pediatric long QT syndrome patients support a CALM3-specific calmodulinopathy.
|
| Chaix MA, Koopmann TT, Goyette P, Alikashani A, Latour F, Fatah M, Hamilton RM, Rioux JD.
|
| HeartRhythm Case Rep 2(3):250-254. doi: 10.1016/j.hrcr.2016.02.002. eCollection 2016 May. No abstract available.
2016
|
| 3 | CALM1, CALM2, CALM3, LQT14, LQT15, LQT16
|
| Spectrum and Prevalence of CALM1-, CALM2-, and CALM3-Encoded Calmodulin Variants in Long QT Syndrome and Functional Characterization of a Novel Long QT Syndrome-Associated Calmodulin Missense Variant, E141G.
|
| Boczek NJ, Gomez-Hurtado N, Ye D, Calvert ML, Tester DJ, Kryshtal D, Hwang HS, Johnson CN, Chazin WJ, Loporcaro CG, Shah M, Papez AL, Lau YR, Kanter R, Knollmann BC, Ackerman MJ.
|
| Circ Cardiovasc Genet 9(2):136-146. doi: 10.1161/CIRCGENETICS.115.001323. Epub 2016 Mar 11.
2016
|
| 4 | CALM3, LQT16
|
| CALM3 mutation associated with long QT syndrome.
|
| Reed GJ, Boczek NJ, Etheridge SP, Ackerman MJ.
|
| Heart Rhythm 12(2):419-22. doi: 10.1016/j.hrthm.2014.10.035. Epub 2014 Oct 31. No abstract available.
2015
|