Title: | Effects of AMPD1 common mutation on the metabolic-chronotropic relationship: Insights from patients with myoadenylate deaminase deficiency |
Journal : | PLoS ONE, 12, 11 |
Authors: | Rannou F, Author ; Scotet V ; Marcorelles P ; Monnoyer R ; Le Maréchal C |
Material Type: | Article |
Publisher: | United States, 2017 |
Size: | e0187266 |
Languages: | English |
Keywords : | hereditary metabolic myopathy ; myoadenylate deaminase ; myoadenylate deaminase deficiency |
Keywords: | AMP Deaminase deficiency;AMP Deaminase genetics;AMP Deaminase metabolism;Adolescent;Adult;Biopsy;Exercise Test;Female;Humans;Male;Middle Aged;Muscle Skeletal;Muscle Skeletal pathology; Mutation; Purine-Pyrimidine metabolism; Inborn Errors; |
Lien associé : | https://www.ncbi.nlm.nih.gov/pubmed/29095874 |
Pubmed / DOI : | Pubmed : 29095874 / DOI : 10.1371/journal.pone.0187266 |
Link for e-copy: | http://www.ncbi.nlm.nih.gov/pubmed/29095874 |