Citations for
1ACTA2, 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
2ACTC1, CMD1R
Idiopathic restrictive cardiomyopathy in children is caused by mutations in cardiac sarcomere protein genes.
Kaski JP, Syrris P, Burch M, Tomé-Esteban MT, Fenton M, Christiansen M, Andersen PS, Sebire N, Ashworth M, Deanfield JE, McKenna WJ, Elliott PM.
Heart 94(11):1478-84. Epub 2008 May 8. 2008
3CMD1P, CMD1R, PLN
Dilated cardiomyopathy and heart failure caused by a mutation in phospholamban.
Schmitt JP, Kamisago M, Asahi M, Li GH, Ahmad F, Mende U, Kranias EG, MacLennan DH, Seidman JG, Seidman CE.
Science 299(5611):1410-3. 2003
4ACTC1, CMD1R
Mutational analysis of the cardiac actin gene in familial and sporadic dilated cardiomyopathy.
Takai E, et al.
Am J Med Genet 86(4):325-7 1999
5ACTC1, CMD1R
Actin mutations in dilated cardiomyopathy, a heritable form of heart failure.
Olson TM, et al.
Science 280 : 750-751. 1998