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 GNE gene. We collected the largest cohort of patients with GNEM from Russia and analyzed their mutational spec...

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Detalles Bibliográficos
Autores principales: 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, Kutsev, Sergey
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2022
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9690815/
https://www.ncbi.nlm.nih.gov/pubmed/36360228
http://dx.doi.org/10.3390/genes13111991

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9690815/
https://www.ncbi.nlm.nih.gov/pubmed/36360228
http://dx.doi.org/10.3390/genes13111991

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