Title: | Mutation profile of the GNE gene in Japanese patients with distal myopathy with rimmed vacuoles (GNE myopathy) |
Journal : | Journal of neurology, neurosurgery and psychiatry, 85, 8 |
Authors: | Cho A ; Hayashi YK ; Monma K ; Oya Y ; Noguchi S ; Nonaka I ; Nishino I |
Material Type: | Article |
Publication Date: | 2014 |
Size: | p. 914-917 |
Languages: | English |
Keywords : | cohort studies ; distal myopathy with rimmed vacuoles ; genetic mutations ; genotype-phenotype correlation ; GNE gene ; Japan ; retrospective studies ; sialic acid |
Pubmed / DOI : | DOI : 10.1136/jnnp-2013-305587 / Pubmed : 24027297 |