Genotype-phenotype correlation analysis in GNE myopathy

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GNE myopathy is an ultra-rare autosomal recessive distal myopathy caused by mutations in the GNE gene. Over 100 disease causing mutations across the gene are currently known. The role of genotype in determining disease severity remains largely unclear. The aim of this study was to analyse clinical outcomes in GNE patients to assess genotype-phenotype correlation. Data was collected via the international patient registry (n = 278). We conducted two types of analysis. (1) Comparing clinical outcome measures between patients with two mutations in epimerise domain (A), two mutations in kinase domain (B) and heterozygous mutation in each domain (C).

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