GNE genotype explains 20% of phenotypic variability in GNE myopathy
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DOI: 10.1212/nxg.0000000000000308
Abstract: 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… read more here.
Keywords: gne; gne myopathy; variability; age onset ... See more keywords