A recurrent GNE variant causing GNE myopathy in unrelated patients from Pakistan: a case series

The GNE variant c.2179G > A (p. Val727Met) is not exclusive to the Indian Rajasthani population but could also be prevalent in Pakistan, likely owing to shared South Asian ancestry. This report represents the first case series from Pakistan focusing on a specific GNE variant, providing a valuable addition to the genetic understanding of GNE myopathy in this population. This finding underscores the need for further genetic studies to explore the presence and impact of GNE variants in Pakistan and neighboring South Asian regions.