Title: | A SIGMAR1 splice-site mutation causes distal hereditary motor neuropathy |
Journal : | Neurology, 84, 24 |
Authors: | Li X ; Hu Z ; Liu L ; Xie Y ; Zhan Y ; Zi X ; Wang J ; Wu L ; Xia K ; Tang B ; Zhang R |
Material Type: | Article |
Publication Date: | 16/06/2015 |
Size: | p 2430 |
Languages: | English |
Keywords : | case studies ; Charcot-Marie-Tooth disease ; China ; clinical presentation ; distal spinal muscular atrophy type Jerash ; homozygotes ; sequencing ; SIGMAR1 gene |
Pubmed / DOI : | DOI : 10.1212/WNL.0000000000001680 / Pubmed : 26078401 |
Link for e-copy: | http://www.ncbi.nlm.nih.gov/pubmed/26078401 |