
Mutational spectrum and clinical features in 35 unrelated mainland Chinese patients with GNE myopathy
Keywords: TA، tibialis قدامی; GNE, UDP-N-acetylglucosamine 2 epimerase/N-acetylmannosamine kinase; DMRV, distal myopathy with rimmed vacuoles; HIBM, hereditary inclusion body myopathy; TA, tibialis anterior; CK, creatine kinase; MRI, magnetic resonance imagingGNE myopathy; Distal myop