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 —...
Saved in:
| Main Authors: | , , , , , , |
|---|---|
| Format: | Article |
| Language: | Russian |
| Published: |
ABV-press
2019-11-01
|
| Series: | Нервно-мышечные болезни |
| Subjects: | |
| Online Access: | https://nmb.abvpress.ru/jour/article/view/344 |
| Tags: |
Add Tag
No Tags, Be the first to tag this record!
|
| _version_ | 1850026099829899264 |
|---|---|
| author | E. L. Dadali I. V. Sharkova G. E. Rudenskaya S. S. Nikitin A. F. Murtazina O. P. Ryzhkova A. L. Chukhrova |
| author_facet | E. L. Dadali I. V. Sharkova G. E. Rudenskaya S. S. Nikitin A. F. Murtazina O. P. Ryzhkova A. L. Chukhrova |
| author_sort | E. L. Dadali |
| collection | DOAJ |
| description | 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. |
| format | Article |
| id | doaj-art-7ad99b2c7a094c959bb1285c35eed853 |
| institution | DOAJ |
| issn | 2222-8721 2413-0443 |
| language | Russian |
| publishDate | 2019-11-01 |
| publisher | ABV-press |
| record_format | Article |
| series | Нервно-мышечные болезни |
| spelling | doaj-art-7ad99b2c7a094c959bb1285c35eed8532025-08-20T03:00:39ZrusABV-pressНервно-мышечные болезни2222-87212413-04432019-11-0193566610.17650/2222-8721-2019-9-3-56-66247Clinical and genetic characteristics of Nonaka myopathy (GNE-myopathy) in russian patientsE. L. Dadali0I. V. Sharkova1G. E. Rudenskaya2S. S. Nikitin3A. F. Murtazina4O. P. Ryzhkova5A. L. Chukhrova6Reseasrch Center of Medical Genetics; Pirogov Russian National Research Medical University, Ministry of Health of RussiaReseasrch Center of Medical GeneticsReseasrch Center of Medical GeneticsAssociation of Neuromuscular Disorders Specialists, Medical Center “Practical Neurology”Reseasrch Center of Medical Genetics; Association of Neuromuscular Disorders Specialists, Medical Center “Practical Neurology”Reseasrch Center of Medical GeneticsReseasrch Center of Medical GeneticsClinical 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.https://nmb.abvpress.ru/jour/article/view/344nonaka myopathygne genegne-myopathiesomim:605820 |
| spellingShingle | E. L. Dadali I. V. Sharkova G. E. Rudenskaya S. S. Nikitin A. F. Murtazina O. P. Ryzhkova A. L. Chukhrova Clinical and genetic characteristics of Nonaka myopathy (GNE-myopathy) in russian patients Нервно-мышечные болезни nonaka myopathy gne gene gne-myopathies omim:605820 |
| title | Clinical and genetic characteristics of Nonaka myopathy (GNE-myopathy) in russian patients |
| title_full | Clinical and genetic characteristics of Nonaka myopathy (GNE-myopathy) in russian patients |
| title_fullStr | Clinical and genetic characteristics of Nonaka myopathy (GNE-myopathy) in russian patients |
| title_full_unstemmed | Clinical and genetic characteristics of Nonaka myopathy (GNE-myopathy) in russian patients |
| title_short | Clinical and genetic characteristics of Nonaka myopathy (GNE-myopathy) in russian patients |
| title_sort | clinical and genetic characteristics of nonaka myopathy gne myopathy in russian patients |
| topic | nonaka myopathy gne gene gne-myopathies omim:605820 |
| url | https://nmb.abvpress.ru/jour/article/view/344 |
| work_keys_str_mv | AT eldadali clinicalandgeneticcharacteristicsofnonakamyopathygnemyopathyinrussianpatients AT ivsharkova clinicalandgeneticcharacteristicsofnonakamyopathygnemyopathyinrussianpatients AT gerudenskaya clinicalandgeneticcharacteristicsofnonakamyopathygnemyopathyinrussianpatients AT ssnikitin clinicalandgeneticcharacteristicsofnonakamyopathygnemyopathyinrussianpatients AT afmurtazina clinicalandgeneticcharacteristicsofnonakamyopathygnemyopathyinrussianpatients AT opryzhkova clinicalandgeneticcharacteristicsofnonakamyopathygnemyopathyinrussianpatients AT alchukhrova clinicalandgeneticcharacteristicsofnonakamyopathygnemyopathyinrussianpatients |