Clinical genetic analysis of myotonia dystrophica in the republic of bashkortostan

R. V. Magzhanov; L. R. Akhmadeeva; Е. К. Khusnutdinova; V. F. Tunik; R. I. Fatkhlislamova; Е. Z. Farrakhov; Е. К. Semenov

doi:10.17816/nb79926

Neurology Bulletin ›› 1997, Vol. XXIX ›› Issue (1-2) : 78 -80. DOI: 10.17816/nb79926

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Clinical genetic analysis of myotonia dystrophica in the republic of bashkortostan

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Abstract

In the Republic of Bashkortostan computer data bank on myotonia dystrophica (MD) was created where information on all diagnosed patients and members of their families was entered. For the first time in the republic qualitative molecular genetic RNA-diagnosis of MD started, with the help of which one phenotypically healthy mutation carrier is revealed. Clinical genetic characteristic of MD in Bashkortostan and main subpopulation of the republic is presented. Besides neuromuscular symptoms cerebral and extraneural symptoms are analyzed.

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Neurological archive of Bekhterev

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R. V. Magzhanov, L. R. Akhmadeeva, Е. К. Khusnutdinova, V. F. Tunik, R. I. Fatkhlislamova, Е. Z. Farrakhov, Е. К. Semenov. Clinical genetic analysis of myotonia dystrophica in the republic of bashkortostan. Neurology Bulletin, 1997, XXIX(1-2): 78-80 DOI:10.17816/nb79926

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