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.

Myotonia permanens with Nav1.4-G1306E displays varied phenotypes during course of life

Siciliano, Gabriele;
2017-01-01

Abstract

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.
2017
Lehmann-Horn, Frank; D'Amico, Adele; Bertini, Enrico; Lomonaco, Mauro; Merlini, Luciano; Nelson, Kevin R; Philippi, Heike; Siciliano, Gabriele; Spaans...espandi
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/11568/960064
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