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

E. L. Dadali; Дадали Е. Л.; I. V. Sharkova; Шаркова И. В.; G. E. Rudenskaya; Руденская Г. Е.; S. S. Nikitin; Никитин С. С.; A. F. Murtazina; Муртазина А. Ф.; O. P. Ryzhkova; Рыжкова О. П.; A. L. Chukhrova; Чухрова А. Л.

doi:10.17650/2222-8721-2019-9-3-56-66

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

Authors: Dadali E.L.¹^,2, Sharkova I.V.¹, Rudenskaya G.E.¹, Nikitin S.S.³, Murtazina A.F.¹^,3, Ryzhkova O.P.¹, Chukhrova A.L.¹
Affiliations:
1. Reseasrch Center of Medical Genetics
2. Pirogov Russian National Research Medical University, Ministry of Health of Russia
3. Association of Neuromuscular Disorders Specialists, Medical Center “Practical Neurology”
Issue: Vol 9, No 3 (2019)
Pages: 56-66
Section: CLINICAL DISCUSSION
Published: 20.11.2019
URL: https://nmb.abvpress.ru/jour/article/view/344
DOI: https://doi.org/10.17650/2222-8721-2019-9-3-56-66
ID: 344

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Abstract

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 — were detected for the first time. The peculiarities of clinical manifestation of Russian patients with GNE-myopathy are described.