• DOI:10.1086/383590
Corpus ID: 44926186

Myotonic dystrophy: RNA pathogenesis comes into focus.

@article{Ranum2004MyotonicDR,
  title={Myotonic dystrophy: RNA pathogenesis comes into focus.},
  author={L. Ranum and J. Day},
  journal={American journal of human genetics},
  year={2004},
  volume={74 5},
  pages={
          793-804
        }
}

L. Ranum, J. Day

Published 2004

Biology, Medicine

American journal of human genetics

Myotonic dystrophy (DM)--the most common form of muscular dystrophy in adults, affecting 1/8000 individuals--is a dominantly inherited disorder with a peculiar and rare pattern of multisystemic clinical features affecting skeletal muscle, the heart, the eye, and the endocrine system. Two genetic loci have been associated with the DM phenotype: DM1, on chromosome 19, and DM2, on chromosome 3. In 1992, the mutation responsible for DM1 was identified as a CTG expansion located in the 3… CONTINUE READING

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