Phenotypic stratification and genotype-phenotype correlation in a heterogeneous, international cohort of GNE myopathy patients: First report from the GNE myopathy Disease Monitoring Program, registry portion.


• Patient registry is a valuable tool in international GNE myopathy research.• The registry expands the knowledge of GNE myopathy genetics and epidemiology• The registry allows monitoring of the disease progression and discover diversity• The data suggest possible genotype-phenotype correlation in GNE myopathy


Leave A Reply