Title: | Muscular Dystrophy with Ribitol-Phosphate Deficiency: A Novel Post-Translational Mechanism in Dystroglycanopathy |
Journal : | Journal of Neuromuscular Diseases, 4, 4 |
Authors: | Kanagawa M, Author ; Toda T |
Material Type: | Article |
Publication Date: | 2017 |
Size: | p 259 |
Languages: | English |
Keywords : | alpha-dystroglycan ; dystroglycan related disease ; FKRP gene ; FKRP protein ; FKTN gene ; fukutine ; glycosylation ; ISPD gene ; reviews ; ribitol-phosphate |
Keywords: | Muscular dystrophy;dystroglycan;dystroglycanopathy;fukutin;fukutin-related protein;glycosylation;isoprenoid synthase domain containing protein;ribitol-phosphate; |
Pubmed / DOI : | DOI : 10.3233/JND-170255 / Pubmed : 29081423 |
Link for e-copy: | http://www.ncbi.nlm.nih.gov/pubmed/29081423 |