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North Eurasian origin of the myotonic dystrophy mutation

✍ Scribed by Giuseppe Novelli; Gabriella Spedini; Giovanni Destro-Bisol; Massimo Gennarelli; Cristina Fattorini; Bruno Dallapiccola

Publisher
John Wiley and Sons
Year
1994
Tongue
English
Weight
204 KB
Volume
4
Category
Article
ISSN
1059-7794

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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