1 | ACTA2, ACTC1, ASD3, ASD5, CMD1R, CMD1S, CMH1, CMH6, CMHNE, MYBPC3, MYH11, MYH6, MYH7, TAAD1, TAAD4
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| Mutations in sarcomeric protein genes not only lead to cardiomyopathy but also to congenital cardiovascular malformations.
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| Wessels MW, Willems PJ.
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| Clin Genet 74(1):16-9. Epub 2008 Apr 8. 2008
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2 | ACTC1, CMD1R
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| Idiopathic restrictive cardiomyopathy in children is caused by mutations in cardiac sarcomere protein genes.
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| 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.
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| Heart 94(11):1478-84. Epub 2008 May 8.
2008
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3 | CMD1P, CMD1R, PLN
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| Dilated cardiomyopathy and heart failure caused by a mutation in phospholamban.
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| Schmitt JP, Kamisago M, Asahi M, Li GH, Ahmad F, Mende U, Kranias EG, MacLennan DH, Seidman JG, Seidman CE.
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| Science 299(5611):1410-3. 2003
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4 | ACTC1, CMD1R
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| Mutational analysis of the cardiac actin gene in familial and sporadic dilated cardiomyopathy.
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| Takai E, et al.
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| Am J Med Genet 86(4):325-7 1999
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5 | ACTC1, CMD1R
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| Actin mutations in dilated cardiomyopathy, a heritable form of heart failure.
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| Olson TM, et al.
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| Science 280 : 750-751. 1998
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