Нервно-мышечные болезни (Nov 2019)

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

DOI
https://doi.org/10.17650/2222-8721-2019-9-3-56-66
Journal volume & issue
Vol. 9, no. 3
pp. 56 – 66

Abstract

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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.

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