Nuclear changes in a case of X-linked Emery-Dreifuss muscular dystrophy.

@article{Ognibene1999NuclearCI,
  title={Nuclear changes in a case of X-linked Emery-Dreifuss muscular dystrophy.},
  author={Andrea Ognibene and Patrizia Sabatelli and Stefania Petrini and Stefano Squarzoni and Massimo Riccio and Spartaco Santi and Marcello Villanova and Silvia Palmeri and Luciano Merlini and Nadir M. Maraldi},
  journal={Muscle & nerve},
  year={1999},
  volume={22 7},
  pages={864-9}
}
Ultrastructural alterations in the nuclear architecture were found in skeletal muscle and skin cultured cells from a patient affected by X-linked Emery-Dreifuss muscular dystrophy (EMD) carrying a null mutation. The molecular defect of X-linked EMD is the absence of emerin, a nuclear envelope-associated protein which is considered a component of the nuclear lamina. The nuclear changes were present in skeletal muscle and skin cultured cells with a frequency of about 10% and 18%, respectively… CONTINUE READING

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