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Article

Mutations in an S4 segment of the adult skeletal muscle sodium channel cause paramyotonia congenita.

Neuron - 1 May 1992

Ptácek L J, George A L, Barchi R L, Griggs R C, Riggs J E, Robertson M, Leppert M F

Abstract excerpt

The periodic paralyses are a group of autosomal dominant muscle diseases sharing a common feature of episodic paralysis. In one form, paramyotonia congenita (PC), the paralysis usually occurs with muscle cooling. Electrophysiologic studies of muscle from PC patients have revealed temperature-dependent alterations in sodium channel (NaCh) function. This observation led to demonstration of genetic linkage of a...

Topics

Alleles
Amino Acid Sequence
Base Sequence
Codon
DNA
Exons
Humans
Introns
Molecular Sequence Data
Muscles
Mutation
Myotonia Congenita

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Nucleic Acid Conformation

Polymorphism, Genetic

Sodium Channels

Source

Identifiers

PMID: 1316765
DOI: 10.1016/0896-6273(92)90203-p

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 29 Aug 2026. Prepared record publication-1316765-2026-08-29.1. Manifest publication-graph-cohort-2026-08-29.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 29 Aug 2026.

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Mutations in an S4 segment of the adult skeletal muscle sodium channel cause paramyotonia congenita.PMID 1316765Read ↗

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