Title: | Charcot-Marie-Tooth Disease Type 2A: From Typical to Rare Phenotypic and Genotypic Features |
Journal : | JAMA Neurology, 71, 8 |
Authors: | Bombelli F ; Stojkovic T ; Dubourg O ; Echaniz-Laguna A ; Tardieu S ; Larcher K ; Amati-Bonneau P ; Latour P ; Vignal O ; Cazeneuve C ; Brice A ; LeGuern E |
Material Type: | Article |
Publication Date: | 2014 |
Size: | p 1036 |
Languages: | English |
Keywords : | brain involvement ; clinical presentation ; clinical variations ; CMT2A1 ; CMT2A2 ; diseases descriptions ; MFN2 gene ; MRI ; observational research ; optic atrophy ; phenotypic heterogeneity ; review article |
Pubmed / DOI : | DOI : 10.1001/jamaneurol.2014.629 / Pubmed : 24957169 |
Link for e-copy: | http://www.ncbi.nlm.nih.gov/pubmed/24957169 |