Title: | GNE myopathy: New name and new mutation nomenclature |
Journal : | Neuromuscular disorders : NMD, 24, 5 |
Authors: | Huizing M ; Carrillo-Carrasco N ; Malicdan MC ; Noguchi S ; Gahl WA ; Mitrani-Rosenbaum S ; Argov Z ; Nishino I |
Material Type: | Article |
Publication Date: | 2014 |
Size: | p 387 |
Languages: | English |
Keywords: | Distal Myopathy with Rimmed Vacuoles (DMRV);GNE Myopathy;Hereditary Inclusion Body Myopathy (HIBM);Inclusion Body Myopathy 2 (IBM2);Nonaka myopathy;Sialic acid;UDP-GlcNAc 2-epimersa/ManNAc kinase; |
Pubmed / DOI : | DOI : 10.1016/j.nmd.2014.03.004 / Pubmed : 24685570 |
Link for e-copy: | http://www.ncbi.nlm.nih.gov/pubmed/24685570 |