Hypokalemic periodic paralysis and the dihydropyridine receptor (CACNL1A3): genotype/phenotype correlations for two predominant mutations and evidence for the absence of a founder effect in 16 caucasian families.

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Article

Hypokalemic periodic paralysis and the dihydropyridine receptor (CACNL1A3): genotype/phenotype correlations for two predominant mutations and evidence for the absence of a founder effect in 16 caucasian families.

American journal of human genetics - 1 Feb 1995

Elbaz A, Vale-Santos J, Jurkat-Rott K, Lapie P, Ophoff R A, Bady B, Links T P, Piussan C, Vila A, Monnier N

Abstract excerpt

Hypokalemic periodic paralysis (hypoPP) is an autosomal dominant disorder belonging to a group of muscle diseases involving the abnormal function of ion channels. This group of muscle diseases also comprises hyperkalemic periodic paralysis and paramyotonia congenita, both sodium-channel diseases, and myotonia congenita, a chloride-channel disorder. HypoPP is characterized by acute attacks of muscle weakness...

Topics

Arginine
Calcium Channels
Calcium Channels, L-Type
Female
Founder Effect
Genotype
Haplotypes
Humans
Male
Muscle Proteins

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Mutation

Paralyses, Familial Periodic

Pedigree

Phenotype

Sex Characteristics

White People

Source

Open in PubMed Open full text

Identifiers

PMID: 7847370
PMCID: PMC1801148

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 29 Aug 2026. Prepared record publication-7847370-2026-08-29.1. Manifest publication-graph-cohort-2026-08-29.1.

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

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