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.


GNE Myopathy Patient

The Japanese GNE myopathy registry was set-up in 2012 and is operated by Dr. Madoka Mori from the National Center of Neurology and Psychiatry, Tokyo.

Genetic database

A locus-specific database listing all reported mutations for the GNE gene is provided by Dr den Dunnen at www.dmd.nl.

 
12 Apr 2017