Myotonic dystrophies 1 and 2: fifteen years of experience of DNA diagnostics at FSBI RCMG
https://doi.org/ 10.25557/2073-7998.2018.12.44-51
Abstract
Myotonic dystrophy (MD) is a common form of muscular dystrophy in adults with autosomal dominant inheritance, characterized by progressive myopathy, myotonia, multiorgan involvement. There are two types of the disease: myotonic dystrophies 1 and 2. Both types are repeat expansion diseases. MD1 is caused by an increase CTG-repeats in the 3’-untranslated region of the DMPK gene on chromosome 19, MD2 - by an increase of CCTG-repeats in intron 1 of the ZNF9 gene on chromosome 3. The phenomenon of anticipation is described for myotonic dystrophy type 1 but not for MD2. Modifying factors are being searched actively in recent years. A sample of FSBI RCMG patients with clinical diagnosis «myotonic dystrophy» was analyzed in this study. Tendencies of the influence of gender as a modifier of the disease severity have been revealed. The proportion of MD2 in the myotonic dystrophies among Russian patients has been established as 17%. Earlier it was supposed that this form might be very rare.
About the Authors
V. V. Zabnenkova
Federal State Budgetary Institution Research Centre for Medical Genetics
Russian Federation
Russian Federation
N. M. Galeeva
Federal State Budgetary Institution Research Centre for Medical Genetics
Russian Federation
Russian Federation
A. L. Chukhrova
Federal State Budgetary Institution Research Centre for Medical Genetics
Russian Federation
Russian Federation
G. E. Rudenskaya
Federal State Budgetary Institution Research Centre for Medical Genetics
Russian Federation
Russian Federation
A. V. Polyakov
Federal State Budgetary Institution Research Centre for Medical Genetics
Russian Federation
Russian Federation
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Review
For citations:
Zabnenkova V.V., Galeeva N.M., Chukhrova A.L., Rudenskaya G.E., Polyakov A.V. Myotonic dystrophies 1 and 2: fifteen years of experience of DNA diagnostics at FSBI RCMG. Medical Genetics. 2018;17(12):44-51. (In Russ.) https://doi.org/ 10.25557/2073-7998.2018.12.44-51
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