Myotonic dystrophy type 2

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Abstract

Myotonic dystrophy, type 2 (DM2) is an autosomal dominant disorder caused by expansion of the CCTG repeats in the zinkfinger protein-9 gene (ZNF9). It has been clinically reported in the middle 1990th. DM2 is less frequent than “classic” DM1, yet is relatively common, mostly in Europeans. Like DM1, DM2 is a multisystem disorder, and main distinctions from DM1 are: relatively late onset, proximal character of myopathy, less severe myotonia, presence of myalgia, etc. Clinical features complicate the diagnosis, and a number of cases cannot be identifiedon time. In the Research Centre for Medical Genetics the DNA diagnostics of DM2 is now available, and several cases have been confirmed molecularly.

 

About the authors

G. E. Rudenskaya

Research Centre for Medical Genetics, Russian Academy of Medical Sciences

Author for correspondence.
Email: geruden@gmail.com
Россия, Moscow

A. V. Polyakov

Research Centre for Medical Genetics, Russian Academy of Medical Sciences

Email: geruden@gmail.com
Россия, Moscow

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