Title: | Atypical presentation of GNE myopathy with asymmetric hand weakness |
Journal : | Neuromuscular disorders : NMD, 24, 12 |
Authors: | de Dios JK ; Shrader JA ; Joe GO ; McClean JC ; Williams K ; Evers R ; Malicdan MC ; Ciccone C ; Mankodi A ; Huizing M ; McKew JC ; Bluemke DA ; Gahl WA ; Carrillo-Carrasco N |
Material Type: | Article |
Publication Date: | 2014 |
Size: | p 1063 |
Languages: | English |
Keywords : | case studies ; distal myopathy with rimmed vacuoles ; GNE myopathy ; handgrip ; hands ; MRI ; muscle weakness |
Keywords: | Distal myopathy with rimmed vacuoles (DMRV);GNE myopathy;Hereditary inclusion body myopathy (HIBM);Inclusion body myopathy 2;N-acetylmannosamine (ManNAc);Nonaka myopathy;Sialic acid; |
Pubmed / DOI : | DOI : 10.1016/j.nmd.2014.07.006 / Pubmed : 25182749 |
Link for e-copy: | http://www.ncbi.nlm.nih.gov/pubmed/25182749 |