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Article

GNE genotype explains 20% of phenotypic variability in GNE myopathy

1 Feb 2019

Abstract excerpt

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 relative contributions of the GNE mutations, homozygosity, and country to the age at onset were explored using linear...

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Identifiers

PMID: 30842975
DOI: 10.1212/nxg.0000000000000308

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