Dihydropyridine receptor mutations cause hypokalemic periodic paralysis.

doi:10.1016/0092-8674(94)90135-x

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Article

Dihydropyridine receptor mutations cause hypokalemic periodic paralysis.

Cell - 17 Jun 1994

Ptácek L J, Tawil R, Griggs R C, Engel A G, Layzer R B, Kwieciński H, McManis P G, Santiago L, Moore M, Fouad G

Abstract excerpt

Hypokalemic periodic paralysis (hypoKPP) is an autosomal dominant skeletal muscle disorder manifested by episodic weakness associated with low serum potassium. Genetic linkage analysis has localized the hypoKPP gene to chromosome 1q31-q32 near a dihydropyridine (DHP) receptor gene. This receptor...

Topics

Alleles
Amino Acid Sequence
Animals
Base Sequence
Calcium Channels
Calcium Channels, L-Type
Chromosomes, Human, Pair 1
DNA
Female
Genetic Linkage
Humans
Hypokalemia

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Male

Molecular Sequence Data

Muscle Proteins

Muscular Diseases

Mutation

Paralysis

Source

Open in PubMed

Identifiers

PMID: 8004673
DOI: 10.1016/0092-8674(94)90135-x

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026. Prepared record publication-8004673-2026-08-30.1. Manifest publication-graph-cohort-2026-08-30.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 30 Aug 2026.

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