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Article

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

Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology - 1 Sept 2017

Lehmann-Horn Frank, D'Amico Adele, Bertini Enrico, Lomonaco Mauro, Merlini Luciano, Nelson Kevin R, Philippi Heike, Siciliano Gabriele, Spaans Frank, Jurkat-Rott Karin

Abstract excerpt

INTRODUCTION: 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. METHODS: Clinical neurophysiology and genetic analysis were performed. Using existing functional expression data we determined the sodium window by integration. RESULTS: In 10 unrelated patients who were...

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PMID: 29774303
PMCID: PMC5953224

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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