Title: | Novel GNE mutations in two phenotypically distinct HIBM2 patients |
Journal : | Neuromuscular disorders : NMD, 21, 2 |
Authors: | Weihl CC ; Miller SE ; Zaidman CM ; Pestronk A ; Baloh RH ; Al-Lozi M |
Material Type: | Article |
Publication Date: | 2011 |
Size: | p. 102-105 |
Languages: | English |
Keywords : | age of disease onset ; case studies ; genetic mutations ; GNE gene ; GNE myopathy ; MRI ; muscle biopsies ; muscle weakness ; phenotypes ; respiratory failure ; rimmed vacuoles ; skeletal muscle |
Abstract: |
Accès au résumé PubMed / to PubMed abstract |
Lien associé : | http://www.ncbi.nlm.nih.gov/pubmed/21131200 |
Pubmed / DOI : | DOI : 10.1016/j.nmd.2010.11.002 |