| 1 | RCM3, TNNT2 |
| Fetal cardiac troponin isoforms rescue the increased Ca2+ sensitivity produced by a novel double deletion in cardiac troponin T linked to restrictive cardiomyopathy: a clinical, genetic, and functional approach. | |
| Pinto JR, Yang SW, Hitz MP, Parvatiyar MS, Jones MA, Liang J, Kokta V, Talajic M, Tremblay N, Jaeggi M, Andelfinger G, Potter JD. | |
| J Biol Chem 286(23):20901-12. Epub 2011 Apr 18. 2011 | |
| 2 | TNNT2, RCM3 |
| A troponin T mutation that causes infantile restrictive cardiomyopathy increases Ca2+ sensitivity of force development and impairs the inhibitory properties of troponin. | |
| Pinto JR, Parvatiyar MS, Jones MA, Liang J, Potter JD. | |
| J Biol Chem 283(4):2156-66. Epub 2007 Nov 21. 2008 | |
| 3 | RCM3 |
| Infantile restrictive cardiomyopathy resulting from a mutation in the cardiac troponin T gene. | |
| Peddy SB, Vricella LA, Crosson JE, Oswald GL, Cohn RD, Cameron DE, Valle D, Loeys BL. | |
| Pediatrics 117(5):1830-3. 2006 | |