Article
Truncations of titin causing dilated cardiomyopathy.
The New England journal of medicine - 16 Feb 2012
Herman Daniel S, Lam Lien, Taylor Matthew R G, Wang Libin, Teekakirikul Polakit, Christodoulou Danos, Conner Lauren, DePalma Steven R, McDonough Barbara, Sparks Elizabeth, Teodorescu Debbie Lin, Cirino Allison L, Banner Nicholas R, Pennell Dudley J, Graw Sharon, Merlo Marco, Di Lenarda Andrea, Sinagra Gianfranco, Bos J Martijn, Ackerman Michael J, Mitchell Richard N, Murry Charles E, Lakdawala Neal K, Ho Carolyn Y, Barton Paul J R, Cook Stuart A, Mestroni Luisa, Seidman J G, Seidman Christine E
Abstract excerpt
BACKGROUND: Dilated cardiomyopathy and hypertrophic cardiomyopathy arise from mutations in many genes. TTN, the gene encoding the sarcomere protein titin, has been insufficiently analyzed for cardiomyopathy mutations because of its enormous size. METHODS: We analyzed TTN in 312 subjects with dilated cardiomyopathy, 231 subjects with hypertrophic cardiomyopathy, and 249 controls by using next-generation or dideoxy...
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