Title: | McArdle Disease: Clinical, Biochemical, Histological and Molecular Genetic Analysis of 60 Patients |
Journal : | Biomedicines, 8, 2 |
Authors: | Joshi PR ; Deschauer M ; Zierz S |
Material Type: | Article |
Publisher: | Switzerland, 02/2020 |
Languages: | English |
Keywords : | genotype-phenotype correlation ; McArdle disease ; muscle glycogen storage disease ; observational research |
Keywords: | McArdle;mutation;myophosphorylase;permanent weakness;second-wind; |
Pubmed / DOI : | Pubmed : 32075227 / DOI : 10.3390/biomedicines8020033 |
N° Profil MNM : | 2020022 |
Link for e-copy: | http://www.ncbi.nlm.nih.gov/pubmed/32075227 |