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Article

Myasthenic syndrome caused by mutation of the SCN4A sodium channel.

Proceedings of the National Academy of Sciences of the United States of America - 10 Jun 2003

Tsujino Akira, Maertens Chantal, Ohno Kinji, Shen Xin-Ming, Fukuda Taku, Harper C Michael, Cannon Stephen C, Engel Andrew G

Abstract excerpt

In a myasthenic syndrome associated with fatigable generalized weakness and recurrent attacks of respiratory and bulbar paralysis since birth, nerve stimulation at physiologic rates rapidly decremented the compound muscle action potential. Intercostal muscle studies revealed no abnormality of the resting membrane potential, evoked quantal release, synaptic potentials, acetylcholine receptor channel kinetics, or...

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Identifiers

PMID: 12766226
DOI: 10.1073/pnas.1230273100
PMCID: PMC165883

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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