Title: | Atypical periodic paralysis and myalgia: A novel RYR1 phenotype |
Journal : | Neurology, 90, 5 |
Authors: | Matthews E, Author ; Neuwirth C ; Jaffer F ; Scalco RS ; Fialho D ; Parton M ; Raja Rayan D ; Suetterlin K ; Sud R ; Spiegel R ; Mein R ; Houlden H ; Schaefer A ; Healy E ; Palace J ; Quinlivan R ; Treves S ; Holton JL ; Jungbluth H ; Hanna MG |
Material Type: | Article |
Publication Date: | 2018 |
Size: | p 412 |
Languages: | English |
Keywords : | case studies ; clinical presentation ; electrodiagnosis ; genetic analysis ; genetic diagnosis ; genetic mutations ; muscle cramps ; muscle histopathology ; muscle pain ; periodic paralysis ; ryanodine receptor related disease ; RYR1 gene |
Pubmed / DOI : | DOI : 10.1212/WNL.0000000000004894 / Pubmed : 29298851 |
N° Profil MNM : | 2018012 |
Link for e-copy: | http://www.ncbi.nlm.nih.gov/pubmed/29298851 |