%0 Journal Article
%T Myotonia permanens with Nav1.4-G1306E displays varied phenotypes during course of life
%A ADELE DĄŻAMICO
%A ENRICO BERTINI
%A FRANK LEHMANN-HORN
%A FRANK SPAANS
%A GABRIELE SICILIANO
%A HEIKE PHILIPPI
%A KARIN JURKAT-ROTT
%A KEVIN R. NELSON
%A LUCIANO MERLINI
%A MAURO LOMONACO
%J Archive of "Acta Myologica".
%D 2017
%X Myotonia permanens due to Nav1.4-G1306E is a rare sodium channelopathy with potentially life-threatening respiratory complications. Our goal was to study phenotypic variability throughout life
%K muscular and respiratory tract diseases
%K neonate
%K stridor
%U https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5953224/