GNE and Distal myopathy, Nonaka type: The p.V572L and p.D176 V mutations are common in Japanese patients,[3] while the p.L508S, p.D176 V, and p.A631 V mutations are common in Chinese patients.[4] Here, we report the case of a Chinese patient with GNE myopathy caused by a rare compound heterozygous mutation in the GNE gene.