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Intergenerational changes of CTG repeat depending on the sex of the transmitting parent in myotonic dystrophy type 1

✍ Scribed by V. Rakočević-Stojanović; D. Savić; S. Pavlović; D. Lavrnić; Z. Stević; I. Basta; S. Romac; S. Apostolski


Book ID
111064275
Publisher
John Wiley and Sons
Year
2005
Tongue
English
Weight
63 KB
Volume
12
Category
Article
ISSN
1351-5101

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Myotonic dystrophy (MD), an autosomal dominant multisystemic disorder with a high phenotypic variability, is the most common muscular dystrophy in adult life. The mutation underlying DM has been characterized as an expanded CTG trinucleotide repeat sequence in the 3 ' untranslated region of a protei