Клинико-генетические характеристики миопатии Нонака (GNE-миопатии) у российских больных

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 – С ys203Ser, 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.