Japanese GNE Myopathy Registry
Historically several other names have been used to describe GNE myopathy such as HIBM- Hereditary Inclusion Body Myopathy, DMRV- Distal myopathy with rimmed vacuoles, QSM- Quadriceps sparing myopathy, and Nonaka disease. GNE myopathy is a rare muscle weakening disorder with mutations in the GNE gene. The disease leads to weakness and wasting of muscles in legs and arms.
A locus-specific database listing all reported mutations for the GNE gene is provided by Dr den Dunnen at www.dmd.nl.