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DMPK-associated myotonic dystrophy and CTG repeats in Alabama African Americans

✍ Scribed by RT Acton; CA Rivers; B Watson; SJ Oh


Book ID
110888477
Publisher
John Wiley and Sons
Year
2007
Tongue
English
Weight
104 KB
Volume
72
Category
Article
ISSN
0009-9163

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Length of (CTG)n triplet repeats in myotonic dystrophy protein kinase gene (DMPK) was estimated in tumors, normal tissues of the same organs, muscles, and leukocytes from three myotonic dystrophy (DM) patients and a non-DM patient. Using cDNA 25 as a probe, a Southern blot analysis of EcoRI- and Bgl

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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