Title: | Phenotype and genotype of muscle ryanodine receptor rhabdomyolysis-myalgia syndrome |
Journal : | Acta neurologica Scandinavica, 137, 5 |
Authors: | Witting N, Author ; Laforet P ; Voermans NC ; Roux-Buisson N ; Bompaire F ; Rendu J ; Duno M ; Feillet F ; Kamsteeg EJ ; Poulsen NS ; Dahlqvist JR ; Romero NB ; Fauré J ; Vissing J ; Behin A |
Material Type: | Article |
Publication Date: | 2018 |
Size: | p 452 |
Languages: | English |
Keywords : | clinical presentation ; creatine kinase ; differential diagnosis ; genetic analysis ; genetic diagnosis ; genetic mutations ; malignant hyperthermia ; muscle exercise ; muscle pain ; rhabdomyolysis ; ryanodine receptor ; ryanodine receptor related disease ; RYR1 gene |
Keywords: | malignant hyperthermia;myalgia;rhabdomyolysis;ryanodine receptor 1; |
Pubmed / DOI : | DOI : 10.1111/ane.12885 / Pubmed : 29635721 |
N° Profil MNM : | 2018042 |
Link for e-copy: | http://www.ncbi.nlm.nih.gov/pubmed/29635721 |