Identification of new mutations in the Emery-Dreifuss muscular dystrophy gene and evidence for genetic heterogeneity of the disease.

@article{Bione1995IdentificationON,
  title={Identification of new mutations in the Emery-Dreifuss muscular dystrophy gene and evidence for genetic heterogeneity of the disease.},
  author={Silvia Bione and Kersten Small and V M Aksmanovic and Michele D'Urso and Alfredo Ciccodicola and Luciano Merlini and Lucia Morandi and Wolfram Kress and John R. Yates and Stephen T Warren},
  journal={Human molecular genetics},
  year={1995},
  volume={4 10},
  pages={1859-63}
}
The Emery-Dreifuss Muscular Dystrophy (EDMD) is an X-linked recessive muscular disorder characterized by early contractures of the elbows, Achilles tendons and postcervical muscles, slowly progressing muscle wasting and weakness and a cardiomyopathy characterized by conduction defects. Heart block is a frequent cause of death. Finding of mutations in one of the transcripts in the critical region in distal Xq28 led to the identification of the gene responsible for the disease. We now report the… CONTINUE READING
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