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Expansion of the myotonic dystrophy CTG repeat reduces expression of the flanking DMAHP gene

✍ Scribed by Thornton, Charles A.; Wymer, James P.; Simmons, Zachary; McClain, Carolyn; Moxley, Richard T.

Book ID
109916759
Publisher
Nature Publishing Group
Year
1997
Tongue
English
Weight
373 KB
Volume
16
Category
Article
ISSN
1061-4036

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## Abstract Myotonic dystrophy type 1 is caused by the expansion of a CTG repeat in the 3β€² UTR of the __DMPK__ gene. A length exceeding 50 CTG triplets is pathogenic. Intermediate alleles with 35–49 triplets are not disease‐causing but show instability in intergenerational transmissions. We report