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Article in Molecular Biology Reports Journal

Molecular Biology Reports Journal (Impact factor 2.107, Q2) published an article by FBSI RCMG DNA-Diagnostics Laboratory (headed by A.V. Polyakov, corr. member of RAS) and Research and Counseling Department (headed by E.L. Dadali, Doctor of med.  sci.):

HINT1 gene pathogenic variants: the most common cause of recessive hereditary motor and sensory neuropathies in Russian patients»

O. A. Shchagina, T. B. Milovidova, A. F. Murtazina, G. E. Rudenskaya, S. S. Nikitin, E. L. Dadali, A. V. Polyakov

The publication presents the results of study and analysis of contribution made by recessive axonopathies, associated with mutations in the HINT1 gene, to the hereditary motor-sensory neuropathies structure in Russian patients. 1596 unrelated Russian families with NMSN were examined. The findings were that this form was one of the most frequent recessive neuropathies; it accounts for almost 2% of all HMSN cases and 9% of axonopathies cases.

Shchagina, O.A., Milovidova, T.B., Murtazina, A.F. et al. Mol Biol Rep (2019).