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Correlation between CTG trinucleotide repeat length and frequency of severe congenital myotonic dystrophy

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Abstract

The myotonic dystrophy (DM) mutation has recently been identified as an unstable trinucleotide CTG repeat which is present 5–30 times in the normal population but which is amplified up to 2,000 times in DM. We have determined the status of the CTG repeat in 272 DM individuals. Infants with severe congenital DM, as well as their mothers, are shown to have on average a greater amplification of the CTG repeat than is seen in the noncongenital DM population. This fact, when viewed in conjunction with the tendency to increased CTG repeat length in our DM kindreds, provides evidence for the existence of genetic anticipation in the transmission of DM.

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Authors and Affiliations

  1. Department of Microbiology and Immunology, University of Ottawa, Ottawa, Ontario, KIH 8M5, Canada

    Catherine Tsilfidis, Juana Barceló & Robert G. Korneluk

  2. Department of Biochemistry, University of Ottawa, Ottawa, Ontario, KIH 8M5, Canada

    Alex E. MacKenzie

  3. Children's Hospital of Eastern Ontario, Ottawa, Ontario, K1H 8L1, Canada

    Alex E. MacKenzie, Gabrielle Mettler & Robert G. Korneluk

Authors
  1. Catherine Tsilfidis
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  2. Alex E. MacKenzie
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  3. Gabrielle Mettler
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  4. Juana Barceló
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  5. Robert G. Korneluk
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Tsilfidis, C., MacKenzie, A., Mettler, G. et al. Correlation between CTG trinucleotide repeat length and frequency of severe congenital myotonic dystrophy. Nat Genet 1, 192–195 (1992). https://doi.org/10.1038/ng0692-192

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  • DOI: https://doi.org/10.1038/ng0692-192

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