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22. Tibial muscular dystrophy is a titinopathy caused by mutations in TTN, the gene encoding the giant skeletal-muscle protein titin. Hackman P, Vihola A, Haravuori H, Marchand S, Sarparanta J, De Seze J, Labeit S, Witt C, Peltonen L, Richard I, Udd B. Am J Hum Genet; 2002 Sep; 71(3):492-500. PubMed ID: 12145747 [Abstract] [Full Text] [Related]
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37. Identification of a novel frameshift mutation in the giant muscle filament titin in a large Australian family with dilated cardiomyopathy. Gerull B, Atherton J, Geupel A, Sasse-Klaassen S, Heuser A, Frenneaux M, McNabb M, Granzier H, Labeit S, Thierfelder L. J Mol Med (Berl); 2006 Jun 15; 84(6):478-83. PubMed ID: 16733766 [Abstract] [Full Text] [Related]
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