In this study, targeted exome capture and high‐throughput sequencing of 411 known genes involved in neuromuscular disorders were performed to identify genetic causes of an autosomal recessive GNE myopathy in a three‐generation Han‐Chinese pedigree.6 A homozygous missense mutation, c.1627G>A (p.V543M), in the GNE gene was found to co‐segregate with the GNE myopathy present in this family. The gene discussed is GNE; the disease is Distal myopathy, Nonaka type.