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Article

Functional characterization and cold sensitivity of T1313A, a new mutation of the skeletal muscle sodium channel causing paramyotonia congenita in humans.

The Journal of physiology - 1 Feb 2004

Bouhours Magali, Sternberg Damien, Davoine Claire-Sophie, Ferrer Xavier, Willer Jean Claude, Fontaine Bertrand, Tabti Nacira

Abstract excerpt

Paramyotonia congenita (PC) is a dominantly inherited skeletal muscle disorder caused by missense mutations in the SCN4A gene encoding the pore-forming alpha subunit (hSkM1) of the skeletal muscle Na+ channel. Muscle stiffness is the predominant clinical symptom. It is usually induced by exposure to cold and is aggravated by exercise. The most prevalent PC mutations occur at T1313 on DIII-DIV linker, and at R1448...

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Identifiers

PMID: 14617673
DOI: 10.1113/jphysiol.2003.053082
PMCID: PMC1664790

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Source receipt: pubmed, retrieved 7 Sept 2026.

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