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GNE genotype explains 20% of phenotypic variability in GNE myopathy

OBJECTIVE: To test the hypothesis that common GNE mutations influence disease severity; using statistical analysis of patient cohorts from different countries. METHODS: Systematic literature review identified 11 articles reporting 759 patients. GNE registry data were used as a second data set. The r...

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Detalles Bibliográficos
Autores principales:	Pogoryelova, Oksana, Wilson, Ian J., Mansbach, Hank, Argov, Zohar, Nishino, Ichizo, Lochmüller, Hanns
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Wolters Kluwer 2019
Materias:	Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6384023/ https://www.ncbi.nlm.nih.gov/pubmed/30842975 http://dx.doi.org/10.1212/NXG.0000000000000308

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