Neuromuscular DiseasesNeuromuscular DiseasesНервно-мышечные болезни2222-87212413-0443Publishing House ABV Press34410.17650/2222-8721-2019-9-3-56-66CLINICAL CASEКЛИНИЧЕСКИЙ РАЗБОРClinical and genetic characteristics of Nonaka myopathy (GNE-myopathy) in russian patientsКлинико-генетические характеристики миопатии Нонака (GNE-миопатии) у российских больныхhttps://orcid.org/0000-0001-5602-2805DadaliE. L.ДадалиЕ. Л.
Russian Federation

1 Moskvorech’e St., Moscow 115478; 1 Ostrovityanova St., Moscow 117997

115478 Москва, ул. Москворечье, 1; 117997Москва, ул. Островитянова, 1

https://orcid.org/0000-0002-5819-4835SharkovaI. V.ШарковаИ. В.
Russian Federation

1 Moskvorech’e St., Moscow 115478

115478 Москва, ул. Москворечье, 1

https://orcid.org/0000-0002-8949-0581RudenskayaG. E.РуденскаяГ. Е.
Russian Federation

1 Moskvorech’e St., Moscow 115478

115478 Москва, ул. Москворечье, 1

https://orcid.org/0000-0003-3292-2758NikitinS. S.НикитинС. С.
Russian Federation

Build. 2, 17Krzhizhanovskogo St., Moscow 117258

117258 Москва, ул. Кржижановского, 17/2

https://orcid.org/0000-0001-7023-7378MurtazinaA. F.МуртазинаА. Ф.
Russian Federation

1 Moskvorech’e St., Moscow 115478; Build. 2, 17Krzhizhanovskogo St., Moscow 117258

Айсылу Фанзировна Муртазина

115478 Москва, ул. Москворечье, 1; 117258 Москва, ул. Кржижановского, 17/2

aysylumurtazina@gmail.comhttps://orcid.org/0000-0003-1285-9093RyzhkovaO. P.РыжковаО. П.
Russian Federation

1 Moskvorech’e St., Moscow 115478

115478 Москва, ул. Москворечье, 1

https://orcid.org/0000-0002-5474-4713ChukhrovaA. L.ЧухроваА. Л.
Russian Federation

1 Moskvorech’e St., Moscow 115478

115478 Москва, ул. Москворечье, 1

Reseasrch Center of Medical GeneticsФГБНУ«Медико-генетический научный центр» Минздрава РоссииPirogov Russian National Research Medical University, Ministry of Health of RussiaФГБОУВО «Российский национальный исследовательский медицинский университет им. Н.И. Пирогова» Минздрава РоссииAssociation of Neuromuscular Disorders Specialists, Medical Center “Practical Neurology”Региональная общественная организация «Общество специалистов по нервно-мышечным болезням», Медицинский центр Практическая неврология201120199356662011201920112019Copyright ©; 2019, Dadali E.L., Sharkova I.V., Rudenskaya G.E., Nikitin S.S., Murtazina A.F., Ryzhkova O.P., Chukhrova A.L.Copyright ©; 2019, Дадали Е.Л., Шаркова И.В., Руденская Г.Е., Никитин С.С., Муртазина А.Ф., Рыжкова О.П., Чухрова А.Л.2019Dadali E.L., Sharkova I.V., Rudenskaya G.E., Nikitin S.S., Murtazina A.F., Ryzhkova O.P., Chukhrova A.L.Дадали Е.Л., Шаркова И.В., Руденская Г.Е., Никитин С.С., Муртазина А.Ф., Рыжкова О.П., Чухрова А.Л.https://creativecommons.org/licenses/by/4.0https://nmb.abvpress.ru/jour/article/view/344

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.

Представлены клинико-генетические характеристики 9 больных с миопатией Нонака (GNE-миопатия) из России. В результате секвенирования экзома зарегистрировано 11 разных мутаций в гене GNE, 8 из которых были описаны ранее, Сys203Ser, Met263CysfsTer и делеция целого гена — выявлены впервые. Описаны особенности клинических проявлений у больных сформированной выборки.

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