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Article

Paramyotonia congenita and hyperkalemic periodic paralysis map to the same sodium-channel gene locus.

American journal of human genetics - 1 Oct 1991

Ptacek L J, Trimmer J S, Agnew W S, Roberts J W, Petajan J H, Leppert M

Abstract excerpt

Paramyotonia congenita (PC), an autosomal dominant muscle disease, shares some clinical and electrophysiological similarities with another myotonic muscle disorder, hyperkalemic periodic paralysis (HYPP). However, clinical and electrophysiologic differences allow differentiation of the two disorders. The HYPP locus was recently shown to be linked to a skeletal muscle sodium-channel gene probe. We now report that...

Topics

DNA Probes
Female
Genes, Dominant
Genetic Linkage
Humans
Hyperkalemia
Lod Score
Male
Muscles
Mutation
Myotonia Congenita
Paralyses, Familial Periodic

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Pedigree

Sodium Channels

Source

Open in PubMed Open full text

Identifiers

PMID: 1654742
PMCID: PMC1683172

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 29 Aug 2026. Prepared record publication-1654742-2026-08-29.1. Manifest publication-graph-cohort-2026-08-29.1.

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

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