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Myotonic dystrophy Rossolimo-Churchman-Steinert-Batten (clinical case)
https://doi.org/10.25557/2073-7998.2020.04.71-72
Abstract
A family case report of Rossolimo-Steinert-Curschmann myotonic dystrophy is presented. An increased number of copies of CTG-repeats of the DMPK gene responsible for the development of MD, i.e., the diagnosis was confirmed by molecular genetic method.
About the Authors
I. A. Sinelnikova
Center for Family Health and Reproduction
Russian Federation
Russian Federation
I. V. Soprunova
Center for Family Health and Reproduction
Russian Federation
Russian Federation
O. P. Nikolaeva
Center for Family Health and Reproduction
Russian Federation
Russian Federation
Review
For citations:
Sinelnikova I.A., Soprunova I.V., Nikolaeva O.P. Myotonic dystrophy Rossolimo-Churchman-Steinert-Batten (clinical case). Medical Genetics. 2020;19(4):71-72. (In Russ.) https://doi.org/10.25557/2073-7998.2020.04.71-72
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