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Correlation Between CTG Trinucleotide Repeat Length and Frequency of Severe Congenital Myotonic Dystrophy

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Correlation Between CTG Trinucleotide Repeat Length and Frequency of Severe Congenital Myotonic Dystrophy

C Tsilfidis et al. Nat Genet.

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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