Title: | Mutational spectrum and clinical features in 35 unrelated mainland Chinese patients with GNE myopathy |
Journal : | Journal of the neurological sciences, 354, 1-2 |
Authors: | Zhao J, Author ; Wang Z ; Hong D ; Lv H ; Zhang W ; Chen J ; Yuan Y |
Material Type: | Article |
Publication Date: | 2015 |
Size: | p 21 |
Languages: | English |
Keywords : | China ; clinical presentation ; differential diagnosis ; distal myopathy with rimmed vacuoles ; genetic mutations ; GNE myopathy ; heterozygotes ; MRI ; phenotypes |
Keywords: | Common mutation;Distal myopathy with rimmed vacuoles;GNE gene;GNE myopathy;Muscle magnetic resonance imaging;Novel mutation; |
Pubmed / DOI : | DOI : 10.1016/j.jns.2015.04.028 / Pubmed : 25986339 |
Link for e-copy: | http://www.ncbi.nlm.nih.gov/pubmed/25986339 |