Rashna S. Dastur

GNE myopathy: a multifaceted review of genetic, clinical, and management perspectives

GNE myopathy is a rare autosomal recessive neuromuscular disorder characterized by progressive distal muscle weakness, early foot drop, and relative sparing of the quadriceps until advanced stages of disease progression. The disorder results from pathogenic variants in the GNE gene, which encodes a bifunctional enzyme...