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Myotonic dystrophy mutation: an unstable CTG repeat in the 3' untranslated region of the gene

✍ Scribed by Mahadevan, M; Tsilfidis, C; Sabourin, L; Shutler, G; Amemiya, C; Jansen, G; Neville, C; Narang, M; Barcelo, J; O'Hoy, K; et, al.

Book ID
127315044
Publisher
American Association for the Advancement of Science
Year
1992
Tongue
English
Weight
1004 KB
Volume
255
Category
Article
ISSN
0036-8075

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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

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Myotonic dystrophy (DM) is associated with an increased number of CTG repeats in the 3 untranslated region of the myotonin gene. Because DM has been observed less frequently in Ashkenazic Jews and non-Jews than in North African and Yemenite Jews in Israel, a study of the CTG repeat polymorphism was