Dergiler / The Anatolian Journal of Cardiology / 2017 / Cilt: 18 - Sayı: 6

A novel mutation in the desmoplakin gene in two female siblings with a rare form of dilated cardiomyopathy: Carvajal syndrome

Sayfa
435–436
DOI
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RAMOĞLU, M. G., UÇAR, T., CEYLANER, S., ATALAY, S., TUTAR, E. (2017). A novel mutation in the desmoplakin gene in two female siblings with a rare form of dilated cardiomyopathy: Carvajal syndrome. The Anatolian Journal of Cardiology, Cilt: 18 - Sayı: 6, 435–436. https://ajindex.com/articles/367243

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Kaynakça (6)

  1. Carvajal-Huerta L. Epidermolytic palmoplantar keratoderma with woolly hair and dilated cardiomyopathy. J Am Acad Dermatol 1998; 39: 418-21
  2. Rasmussen TB, Hansen J, Nissen PH, Palmfeldt J, Dalager S, Jensen UB, et al. Protein expression studies of desmoplakin mutations in cardiomyopathy patients reveal different molecular disease mechanisms. Clin Genet 2013; 84: 20-30
  3. Green KJ, Parry DA, Steinert PM, Virata ML, Wagner RM, Angst BD, et al. Structure of the human desmoplakins. Implications for function in the desmosomal plaque. J Biol Chem 1990; 265: 2603-12
  4. Holthofer B, Windoffer R, Troyanovsky S, Leube RE. Structure and function of desmosomes. Int Rev Cytol 2007; 264: 65-163
  5. Norgett EE, Hatsell SJ, Carvajal-Huerta L, Cabezas JC, Common J, Purkis PE, et al. Recessive mutation in desmoplakin disrupts desmoplakin-intermediate filament interactions and causes dilated cardiomyopathy, woolly hair and keratoderma. Hum Mol Genet 2000; 9: 2761-6
  6. Molho-Pessach V, Sheffer S, Siam R, Tams S, Siam I, Awwad R. et al. Two Novel Homozygous Desmoplakin Mutations in Carvajal Syndrome. Pediatr Dermatol 2015; 32: 641-6.