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Erectile dysfunction in myotonic dystrophy type 1 (DM1)

✍ Scribed by Giovanni Antonini; Alessandro Clemenzi; Elisabetta Bucci; Stefania Morino; Matteo Garibaldi; Micaela Sepe-Monti; Franco Giubilei; Giuseppe Novelli

Publisher
Springer
Year
2009
Tongue
English
Weight
173 KB
Volume
256
Category
Article
ISSN
0340-5354

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Improved method for molecular diagnosis
Improved method for molecular diagnosis of myotonic dystrophy type 1 (DM1)
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## Abstract Myotonic dystrophy type 1 (DM1) has been identified as the amplification of a polymorphic (CTG)n repeat in the 3β€² untranslated region of a gene encoding a serine/threonine kinase (DMPK). The length of the CTG repeat correlates with clinical severity and the age at onset of the disease.

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## Abstract Myotonic dystrophy (DM1), the most common adult muscular dystrophy, is a multisystem, autosomal dominant genetic disorder caused by an expanded CTG repeat that leads to nuclear retention of a mutant RNA and subsequent RNA toxicity. Significant insights into the molecular mechanisms of R