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The mechanism of myotonic dystrophy

✍ Scribed by Kenneth H. Fischbeck


Publisher
John Wiley and Sons
Year
1994
Tongue
English
Weight
234 KB
Volume
35
Category
Article
ISSN
0364-5134

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## Abstract Myotonic dystrophy type 1 (DM1) is a dominant neuromuscular disorder caused by the expansion of trinucleotide CTG repeats in the 3′‐untranslated region (3′‐UTR) of the DMPK gene. Prominent features of classical DM1 are muscle wasting and myotonia, whereas mental retardation is distincti