| 1 | CKM, CMD1I, DES, SRF
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| Muscle creatine kinase deficiency triggers both actin depolymerization and desmin disorganization by advanced glycation end products in dilated cardiomyopathy.
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| Diguet N, Mallat Y, Ladouce R, Clodic G, Prola A, Tritsch E, Blanc J, Larcher JC, Delcayre C, Samuel JL, Friguet B, Bolbach G, Li Z, Mericskay M.
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| J Biol Chem 286(40):35007-19. Epub 2011 Jul 17. 2011
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| 2 | CMD1I, DES
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| Prevalence of desmin mutations in dilated cardiomyopathy.
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| Taylor MR, Slavov D, Ku L, Di Lenarda A, Sinagra G, Carniel E, Haubold K, Boucek MM, Ferguson D, Graw SL, Zhu X, Cavanaugh J, Sucharov CC, Long CS, Bristow MR, Lavori P, Mestroni L; Familial Cardiomyopathy Registry; BEST (Beta-Blocker Evaluation of Survival Trial) DNA Bank.
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| Circulation 115(10):1244-51. Epub 2007 Feb 26. 2007
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| 3 | DES, CMD1I
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| Desmin mutation responsible for idiopathic dilated cardiomyopathy.
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| Li D, Tapscoft T, Gonzalez O, Burch PE, Quinones MA, Zoghbi WA, Hill R, Bachinski LL, Mann DL, Roberts R.
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| Circulation 100(5):461-4 1999
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