Clinical and genetic characteristics of Nonaka myopathy (GNE-myopathy) in russian patients
E. L. Dadali,
I. V. Sharkova,
G. E. Rudenskaya,
S. S. Nikitin,
A. F. Murtazina,
O. P. Ryzhkova,
A. L. Chukhrova https://doi.org/10.17650/2222-8721-2019-9-3-56-66
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.
About the Authors
E. L. Dadali
Reseasrch Center of Medical Genetics; Pirogov Russian National Research Medical University, Ministry of Health of Russia
Russian Federation
Russian Federation
1 Moskvorech’e St., Moscow 115478; 1 Ostrovityanova St., Moscow 117997
I. V. Sharkova
Reseasrch Center of Medical Genetics
Russian Federation
Russian Federation
1 Moskvorech’e St., Moscow 115478
G. E. Rudenskaya
Reseasrch Center of Medical Genetics
Russian Federation
Russian Federation
1 Moskvorech’e St., Moscow 115478
S. S. Nikitin
Association of Neuromuscular Disorders Specialists, Medical Center “Practical Neurology”
Russian Federation
Russian Federation
Build. 2, 17Krzhizhanovskogo St., Moscow 117258
A. F. Murtazina
Reseasrch Center of Medical Genetics; Association of Neuromuscular Disorders Specialists, Medical Center “Practical Neurology”
Russian Federation
Russian Federation
1 Moskvorech’e St., Moscow 115478; Build. 2, 17Krzhizhanovskogo St., Moscow 117258
O. P. Ryzhkova
Reseasrch Center of Medical Genetics
Russian Federation
Russian Federation
1 Moskvorech’e St., Moscow 115478
A. L. Chukhrova
Reseasrch Center of Medical Genetics
Russian Federation
Russian Federation
1 Moskvorech’e St., Moscow 115478
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Review
For citations:
Dadali E.L., Sharkova I.V., Rudenskaya G.E., Nikitin S.S., Murtazina A.F., Ryzhkova O.P., Chukhrova A.L. Clinical and genetic characteristics of Nonaka myopathy (GNE-myopathy) in russian patients. Neuromuscular Diseases. 2019;9(3):56-66. (In Russ.) https://doi.org/10.17650/2222-8721-2019-9-3-56-66
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