GNE genotype is associated with GNE myopathy phenotypic variability

Takeaway

  • GNE genotype explains around 20% of variability in the onset of the disease and has a significant influence on the rate of ambulation loss in people with GNE myopathy.

Why this matters ?

  • Associations between GNE genotype and disease phenotype could have important implications for patient management and the design of future clinical trials.