| 1 | CMD1E, SCN5A
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| R222Q SCN5A mutation is associated with reversible ventricular ectopy and dilated cardiomyopathy.
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| Mann SA, Castro ML, Ohanian M, Guo G, Zodgekar P, Sheu A, Stockhammer K, Thompson T, Playford D, Subbiah R, Kuchar D, Aggarwal A, Vandenberg JI, Fatkin D.
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| J Am Coll Cardiol 60(16):1566-73. doi: 10.1016/j.jacc.2012.05.050. Epub 2012 Sep 19.
2012
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| 2 | CMD1E, SCN5A
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| SCN5A mutations associate with arrhythmic dilated cardiomyopathy and commonly localize to the voltage-sensing mechanism.
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| McNair WP, Sinagra G, Taylor MR, Di Lenarda A, Ferguson DA, Salcedo EE, Slavov D, Zhu X, Caldwell JH, Mestroni L; Familial Cardiomyopathy Registry Research Group.
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| J Am Coll Cardiol 57(21):2160-8. doi: 10.1016/j.jacc.2010.09.084.
2011
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| 3 | CMD1E, SCN5A
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| Dilated cardiomyopathy is associated with reduced expression of the cardiac sodium channel Scn5a.
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| Hesse M, Kondo CS, Clark RB, Su L, Allen FL, Geary-Joo CT, Kunnathu S, Severson DL, Nygren A, Giles WR, Cross JC.
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| Cardiovasc Res 75(3):498-509. Epub 2007 Apr 21.
2007
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| 4 | SCN5A, CMD1E
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| SCN5A mutation associated with dilated cardiomyopathy, conduction disorder, and arrhythmia.
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| McNair WP, Ku L, Taylor MR, Fain PR, Dao D, Wolfel E, Mestroni L; Familial Cardiomyopathy Registry Research Group.
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| Circulation 110(15):2163-7. Epub 2004 Oct 4. 2004
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| 5 | ATFB1A, CMD1E, GJA5, SCN5A
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| A cardiac sodium channel mutation cosegregates with a rare connexin40 genotype in familial atrial standstill.
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| Groenewegen WA, Firouzi M, Bezzina CR, Vliex S, van Langen IM, Sandkuijl L, Smits JP, Hulsbeek M, Rook MB, Jongsma HJ, Wilde AA.
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| Circ Res 92(1):14-22. 2003
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| 6 | CMD1E
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| Mapping a cardiomyopathy locus to chromosome 3p22-p25.
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| Olson TM, et al.
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| J Clin Invest 97 : 528-532. 1996
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