ACTC

in references

Gene discovery reference:

Olson TM, Michels VV, Thibodeau SN, Tai YS, and Keating MT. Cardiac Actin. ACTC (cardiac actin) is an essential component of the cardiac sarcomere. Science. 1998; 280:750-752.

Actin mutation frequency in FDC/IDC:

Olson et al., 1998: 2/???

Mayosi 1999: 0/8 FDC; 0/46 IDC

Takai 1999: 0/30 FDC; 0/106 IDC

Tesson 2000: 0/43 IDC & 0/43 FDC

Mohapatra 2003: 0/110 IDC

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Mutation Frequency References:

Mayosi B, Khogali S, Zhang B, and Watkins H. Cardiac and skeletal actin gene mutations are not a common cause of dilated cardiomyopathy. J Med Genet. 1999;36:796-797.

Takai E, Akita H, Shiga N, Kanazawa K, Yamada S, Terashima M, Matsuda Y, Iwai C, Kawai K, Yokota Y, and Yokoyama M. Mutational analysis of the cardiac actin gene in familial and sporadic dilated cardiomyopathy. Am J Med Genet. 1999 Oct 8;86(4):325-7

Tesson F, Sylvius N, Pilotto A, Dubosq-Bidot L, Peuchmaurd M, Bouchier C, Benaiche A, Mangin L, Charron P, Gavazzi A, Tavazzi L, Arbustini E, Komajda M. Epidemiology of desmin and cardiac actin gene mutations in a European population of dilated cardiomyopathy. Eur Heart J. 2000;21:1872-6.

Mohapatra B, Jimenez S, Lin JH, Bowles KR, Coveler KJ, Marx JG, Chrisco MA, Murphy RT, Lurie PR, Schwartz RJ, Elliott PM, Vatta M, McKenna W, Towbin JA, Bowles NE. Mutations in the muscle LIM protein and alpha-actinin-2 genes in dilated cardiomyopathy and endocardial fibroelastosis. Mol Genet Metab. 2003;80:207-15.