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Article

De novo variant in SCN4A causes neonatal sodium channel myotonia with general muscle stiffness and respiratory failure.

Neuromuscular disorders : NMD - 1 Nov 2019

Pechmann Astrid, Eckenweiler Matthias, Schorling David, Stavropoulou Dimitra, Lochmüller Hanns, Kirschner Janbernd

Abstract excerpt

Variants of the skeletal muscle sodium channel gene SCN4A are associated with different neuromuscular disorders including sodium channel myotonia. Here, we report an infant with a de novo variant in SCN4A presenting with neonatal onset of severe muscle stiffness with involvement of facial and eyelid muscles, and life-threatening events with respiratory failure due to severe apnoea and thorax rigidity. The boy...

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Source

Identifiers

PMID: 31732390
DOI: 10.1016/j.nmd.2019.09.001

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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