Title: | McArdle Disease: New Insights into Its Underlying Molecular Mechanisms |
Journal : | International Journal of molecular sciences, 20, 23 |
Authors: | Llavero F ; Arrazola Sastre A ; Luque Montoro M ; Galvez P ; Lacerda HM ; Parada LA ; Zugaza JL |
Material Type: | Article |
Publisher: | Switzerland, 11/2019 |
Languages: | English |
Keywords : | animal models ; clinical trials ; genotype-phenotype correlation ; hereditary metabolic myopathy ; McArdle disease ; muscle glycogen storage disease ; neuromuscular disease ; physiopathology ; PYGM gene ; review article |
Keywords: | McArdle disease;O-glycosylation;glycogen phosphorylase;glycogen storage disease type V;hexosamine biosynthetic pathway;small GTPases; |
Pubmed / DOI : | Pubmed : 31775340 / DOI : 10.3390/ijms20235919 |
N° Profil MNM : | 2019121 |
Link for e-copy: | http://www.ncbi.nlm.nih.gov/pubmed/31775340 |