GNE myopathy in a Chinese male with a novel homozygous mutation

•A typical GNE myopathy patient from China with novel nomozygous GNE gene mutation.•We expended the mutational spectrum of the GNE gene.

GNE myopathy is a rare autosomal recessive inheritance disease due to the mutation of GNE gene. To date, 107 mutations have been reported in different populations worldwide in GNE gene(HGMD Professional 2016.2). Here we report a patient of novel homozygous GNE gene mutation from China.