Myotonic dystrophy mutation: An unstable CTG repeat in the 3′ untranslated region of the gene

Mani Mahadevan, Caherine Tsilfidis, Luc Sabourin, Gay Shutler, Chris Amemiya, Gert Jansen, Catherine Neville, Monica Narang, Juana Barceló, Kim O'Hoy, Suzanne Leblond, Jane Earle-Macdonald, Pieter J. De Jong, Bé Wieringa, Robert G. Korneluk*

*Corresponding author for this work

Research output: Contribution to journalArticleAcademicpeer-review

1415 Citations (Scopus)


Myotonic dystrophy (DM) is the most common inherited neuromuscular disease in adults, with a global incdence of 1 in 8000 individuals. DM is an autosomal dominant, multisystemic disorder characterized primarily by myotonia and progressive muscle weakness. Genomic and complementary DNA probes that map to a 10-kilobase Eco RI genomic fragment from human chromosome 19q13.3 have been used to detect a variable length polymorphism in individuals with DM. Increases in the size ofthe allele in patients with DM are now shown to be due to an increased number of trinucleotide CTG repeats in the 3′ untranslated region of a DM candidate gene. An increase in the severity of the disease in successive generations (genetic anticipation) is accompanied by an increase in the number of trinucleotide repeats. Nearly all cases of DM (98 percent or 253 of 258 individuals) displayed expansion of the CTG repeat region. These results suggest that DM is primarily caused by mutations that generate an amplification of a specific CTG repeat.

Original languageEnglish
Pages (from-to)1253-1255
Number of pages3
Issue number5049
Publication statusPublished - 6 Mar 1992
Externally publishedYes


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