Introduction
muscle weakness, DMRV, hereditary myogenic disorder, GNE myopathy, hIBM
MUSCLE WEAKNESS, RARE DISEASE, DISTAL MYOPATHY WITH RIMMED VACUOLES, HEREDITARY INCLUSION BODY MYOPATHY, GNE MYOPATHY, DISEASE
GNE myopathy (also known as distal myopathy with rimmed vacuoles [DMRV], hereditary inclusion body myopathy [hIBM] or Nonaka Disease) is a hereditary myogenic disorder that results in muscle weakness due to a defect in muscle itself [Previously, the mechanism of onset of GNE myopathy was quite unknown. In 2001, Eisenberg et al. identified missense mutations in the To evaluate the safety and pharmacokinetics of orally administered aceneuramic acid in humans, we conducted phase I studies in patients with GNE myopathy [GNE myopathy is a rare disease that gradually progresses over a long time [