Heart-specific localization of emerin: new insights into Emery-Dreifuss muscular dystrophy.

@article{Cartegni1997HeartspecificLO,
  title={Heart-specific localization of emerin: new insights into Emery-Dreifuss muscular dystrophy.},
  author={L Cartegni and Marina Raffaele di Barletta and Rita Barresi and Stefano Squarzoni and Patrizia Sabatelli and Nadir M. Maraldi and Marina Mora and Claudia Di Blasi and Ferdinando Cornelio and Luciano Merlini and Anna Villa and Fabio Cobianchi and Daniela Toniolo},
  journal={Human molecular genetics},
  year={1997},
  volume={6 13},
  pages={2257-64}
}
Emery-Dreifuss muscular dystrophy (EDMD) is an X-linked inherited disease characterized by early contracture of the elbows, Achilles tendons and post-cervical muscles, slow progressive muscle wasting and weakness and cardiomyopathy presenting with arrhythmia and atrial paralysis: heart block can eventually lead to sudden death. The EDMD geneencodes a novel ubiquitous protein, emerin, which decorates the nuclear rim of many cell types. Amino acid sequence homology and cellular localization… CONTINUE READING