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Congenital myotonic dystrophy; a report on thirteen cases and a review of the literature

✍ Scribed by A.T.M. Hageman; F.J.M. Gabreëls; K.D. Liem; K. Renkawek; J.M. Boon

Book ID
118931643
Publisher
Elsevier Science
Year
1993
Tongue
English
Weight
692 KB
Volume
115
Category
Article
ISSN
0022-510X

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The molecular basis of the myotonic dystrophy (MD) kinase gene is expansion of the CTG repeat at the 3-untranslated region of the MD gene. Variability of the CTG repeat size in different tissues of affected individuals has been demonstrated. The objective of this report was to examine and review the