Genetic and Clinical Spectrum of GNE Myopathy in Russia
Genetic and Clinical Spectrum of GNE Myopathy in Russia
About this item
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Author / Creator
Murtazina, Aysylu , Nikitin, Sergey , Rudenskaya, Galina , Sharkova, Inna , Borovikov, Artem , Sparber, Peter , Shchagina, Olga , Chukhrova, Alena , Ryzhkova, Oksana , Shatokhina, Olga , Orlova, Anna , Udalova, Vasilisa , Kanivets, Ilya , Korostelev, Sergey , Polyakov, Alexander , Dadali, Elena and Kutsev, Sergey
Publisher
Basel: MDPI AG
Journal title
Language
English
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Publication information
Publisher
Basel: MDPI AG
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More information
Scope and Contents
Contents
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 GNE gene. We collected the largest cohort of patients with GNEM from Russia and analyzed their mutational spectrum and clinical data. In our cohort, 10 novel va...
Alternative Titles
Full title
Genetic and Clinical Spectrum of GNE Myopathy in Russia
Authors, Artists and Contributors
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Primary Identifiers
Record Identifier
TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_9690815
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_9690815
Other Identifiers
ISSN
2073-4425
E-ISSN
2073-4425
DOI
10.3390/genes13111991
