Title: | SOD1 p.D12Y variant is associated with ALS/distal myopathy spectrum |
Journal : | European journal of neurology |
Authors: | Tasca G ; Lattante S ; Marangi G ; Conte A ; Bernardo D ; Bisogni G ; Mandich P ; Zollino M ; Ragozzino E ; Udd B ; Sabatelli M |
Material Type: | Article |
Publisher: | England, 04/2020 |
Languages: | English |
Keywords : | amyotrophic lateral sclerosis ; case studies ; differential diagnosis ; distal myopathy ; genotype-phenotype correlation ; SOD1 gene |
Keywords: | SOD1;all neuromuscular disease;amyotrophic lateral sclerosis;distal myopathy;muscle disease; |
Pubmed / DOI : | Pubmed : 32250500 / DOI : 10.1111/ene.14246 |
N° Profil MNM : | 2020041 |
Link for e-copy: | http://www.ncbi.nlm.nih.gov/pubmed/32250500 |