Title: | Discordant manifestations in Italian brothers with GNE myopathy |
Journal : | Journal of the neurological sciences, 386 |
Authors: | Dotti MT, Author ; Malandrini A ; Lornage X ; Mignarri A ; Cantisani TA ; Bohm J ; Laporte J ; Malfatti E |
Material Type: | Article |
Publication Date: | 2018 |
Languages: | English |
Keywords : | case studies ; clinical presentation ; clinical variations ; genetic analysis ; genetic diagnosis ; genetic mutations ; GNE gene ; GNE myopathy ; intrafamilial variations ; Italy ; MRI ; muscle histopathology ; phenotypic heterogeneity |
Keywords: | Clinical discordance;Exome sequencing;GNE myopathy;Italy;Rimmed vacuoles;UDP-N-acetyl-glucosamine 2-epimerase/N-acetylmannosamine kinase; |
Pubmed / DOI : | DOI : 10.1016/j.jns.2018.01.002 / Pubmed : 29406958 |
N° Profil MNM : | 2018022 |
Link for e-copy: | http://www.ncbi.nlm.nih.gov/pubmed/29406958 |