Identification of a novel X-linked gene responsible for Emery-Dreifuss muscular dystrophy

@article{Bione1994IdentificationOA,
  title={Identification of a novel X-linked gene responsible for Emery-Dreifuss muscular dystrophy},
  author={Silvia Bione and Elena Maestrini and Stefano Rivella and Mita Mancini and Stefano Regis and Giovanni Romeo and Daniela Toniolo},
  journal={Nature Genetics},
  year={1994},
  volume={8},
  pages={323-327}
}
Emery-Dreifuss muscular dystrophy (EDMD) is an X-linked recessive disorder characterized by slowly progressing contractures, wasting of skeletal muscle and cardiomyopathy. Heart block is a frequent cause of death. The disease gene has been mapped to distal Xq28. Among many genes in this region, we selected eight transcripts expressed at high levels in skeletal muscle, heart and/or brain as the best candidates for the disease. We now report, in all five patients studied, unique mutations in one… CONTINUE READING
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