Clinical and genetic characteristics of Nonaka myopathy (GNE-myopathy) in russian patients

Clinical and genetic characteristics of Nonaka myopathy (GNE-myopathy) in russian patients

Clinical and genetic characteristics of 9patients with Nonaka myopathy (GNE-myopathy) from Russia are presented. As a result of exom sequencing, 11 different mutations were revealed in the GNE gene, 8 of which were described earlier, and 3 – Сys203Ser, Met263CysfsTer and deletion of the whole gene —...

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Bibliographic Details
Main Authors: E. L. Dadali, I. V. Sharkova, G. E. Rudenskaya, S. S. Nikitin, A. F. Murtazina, O. P. Ryzhkova, A. L. Chukhrova
Format: Article
Language:Russian
Published: ABV-press 2019-11-01
Series:Nervno-Myšečnye Bolezni
Subjects:
nonaka myopathy
gne gene
gne-myopathies
omim:605820
Online Access:https://nmb.abvpress.ru/jour/article/view/344

Internet

https://nmb.abvpress.ru/jour/article/view/344

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