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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Bibliographic Details
Published inNervno-myshechnye bolezni Vol. 9; no. 3; pp. 56 - 66
Main Authors Dadali, E. L., Sharkova, I. V., Rudenskaya, G. E., Nikitin, S. S., Murtazina, A. F., Ryzhkova, O. P., Chukhrova, A. L.
Format Journal Article
LanguageEnglish
Published ABV-press 20.11.2019
Subjects
gne gene
gne-myopathies
nonaka myopathy
omim:605820
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Summary: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.
ISSN:2222-8721
2413-0443
DOI:10.17650/2222-8721-2019-9-3-56-66