Genetic and Clinical Spectrum of GNE Myopathy in Russia

Genetic and Clinical Spectrum of GNE Myopathy in Russia

GNE myopathy (GNEM) is a rare hereditary disease, but at the same time, it is the most common distal myopathy in several countries due to a founder effect of some pathogenic variants in the <i>GNE</i> gene. We collected the largest cohort of patients with GNEM from Russia and analyzed th...

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Bibliographic Details
Main Authors: Aysylu Murtazina, Sergey Nikitin, Galina Rudenskaya, Inna Sharkova, Artem Borovikov, Peter Sparber, Olga Shchagina, Alena Chukhrova, Oksana Ryzhkova, Olga Shatokhina, Anna Orlova, Vasilisa Udalova, Ilya Kanivets, Sergey Korostelev, Alexander Polyakov, Elena Dadali, Sergey Kutsev
Format: Article
Language:English
Published: MDPI AG 2022-10-01
Series:Genes
Subjects:
GNE myopathy
Nonaka myopathy
hereditary inclusion body myopathy
atypical cases
Online Access:https://www.mdpi.com/2073-4425/13/11/1991

Internet

https://www.mdpi.com/2073-4425/13/11/1991

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