Upregulation of hallmark muscle genes may mediate protective kidney and muscle phenotype

Takeaway

  • The results from this study may help to bridge the gap between human GNE myopathy and the GneM743T/M743T knock-in mouse model.

Why this matters

  • GNE myopathy is a unique recessive neuromuscular disorder characterized by adult-onset, slowly progressive distal and proximal muscle weakness, and a typical muscle pathology.

  • The results of this study may provide new insights into the current understanding of GNE; providing potential opportunities to identify novel clinical modifiers of the human muscle disease.