Administering sialic acid metabolites to mice with distal myopathy with rimmed vacuoles (DMRV)–hereditary inclusion body myopathy (hIBM) prevents the onset of muscle atrophy, weakness and ...

Recently, I have generated a transgenic mouse model for a skeletal muscle disease, the Laing distal myopathy. These mice carry a single arginine to proline mutation in the β-myosin rod domain and now ...