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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| Main Authors: | , , , , , , |
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| Format: | Article |
| Language: | Russian |
| Published: |
ABV-press
2019-11-01
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| Series: | Нервно-мышечные болезни |
| Subjects: | |
| Online Access: | https://nmb.abvpress.ru/jour/article/view/344 |
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