| 1 | CMD1S, MYH7 |
| Early-Onset Hypertrophic Cardiomyopathy Mutations Significantly Increase the Velocity, Force, and Actin-Activated ATPase Activity of Human β-Cardiac Myosin. | |
| Adhikari AS, Kooiker KB, Sarkar SS, Liu C, Bernstein D, Spudich JA, Ruppel KM. | |
| Cell Rep 17(11):2857-2864. doi: 10.1016/j.celrep.2016.11.040. 2016 | |
| 2 | CMD1S, MYH7 |
| A mutation in the beta-myosin rod associated with hypertrophic cardiomyopathy has an unexpected molecular phenotype. | |
| Armel TZ, Leinwand LA. | |
| Biochem Biophys Res Commun 391(1):352-6. doi: 10.1016/j.bbrc.2009.11.062. Epub 2009 Nov 12. 2010 | |
| 3 | ACTA2, ACTC1, ASD3, ASD5, CMD1R, CMD1S, CMH1, CMH6, CMHNE, MYBPC3, MYH11, MYH6, MYH7, TAAD1, TAAD4 |
| Mutations in sarcomeric protein genes not only lead to cardiomyopathy but also to congenital cardiovascular malformations. | |
| Wessels MW, Willems PJ. | |
| Clin Genet 74(1):16-9. Epub 2008 Apr 8. 2008 | |
| 4 | CMD1S, MYH7 |
| Noncompaction of the ventricular myocardium is associated with a de novo mutation in the beta-myosin heavy chain gene. | |
| Budde BS, Binner P, Waldmüller S, Höhne W, Blankenfeldt W, Hassfeld S, Brömsen J, Dermintzoglou A, Wieczorek M, May E, Kirst E, Selignow C, Rackebrandt K, Müller M, Goody RS, Vosberg HP, Nürnberg P, Scheffold T. | |
| PLoS ONE 2(12):e1362. 2007 | |