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Article

Reduced muscle-fiber conduction but normal slowing after cold exposure in paramyotonia congenita.

Muscle & nerve - 1 Jan 2008

Blijham Paul J, Drost Gea, Stegeman Dick F, Zwarts Machiel J

Abstract excerpt

In this study we investigated a family with paramyotonia (PC) congenita caused by a Gly1306Val mutation in the voltage-gated sodium-channel gene SCN4A. A previous study showed that exposure to cold aggravates the muscle stiffness in patients with this mutation. However, the mechanism behind cold sensitivity and the sodium-channel defect remained unclear. In order to gain a better understanding of sarcolemmal...

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Source

Identifiers

PMID: 17823953
DOI: 10.1002/mus.20885

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

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