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An intergenerational contraction of the CTG repeat in Japanese myotonic dystrophy

✍ Scribed by Ryusuke Matsumura; Tadashi Namikawa; Tetsuro Miki; Tameko Kihira; Hidehisa Yamagata; Yukio Mano; Tetsuya Takayanagi


Book ID
118932471
Publisher
Elsevier Science
Year
1996
Tongue
English
Weight
521 KB
Volume
139
Category
Article
ISSN
0022-510X

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Frequency of intergenerational contracti
✍ A. LΓ³pez de Munain; A.M. Cobo; A. SΓ‘enz; A. Blanco; J.J. Poza; L. Martorell; J.F πŸ“‚ Article πŸ“… 1996 πŸ› John Wiley and Sons 🌐 English βš– 337 KB πŸ‘ 2 views

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