Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Mutation analysis of two patients with hypokalemic periodic paralysis and suspected malignant hyperthermia

11 May 2004

Abstract excerpt

Hypokalemic periodic paralysis (HypoPP) and malignant hyperthermia (MH) are autosomal-dominant genetically heterogeneous ion channelopathies. MH has been described in patients with HypoPP, suggesting a potential link between these disorders. However, a common genetic determinant has not been described. With the aim of corroborating this association, four candidate genes were screened in two independent HypoPP...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Cardiac electrophysiology and arrhythmias
Share to Ion channel regulation and function
Share to Neuroscience and Neuropharmacology Research

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Source

Identifiers

PMID: 15221887
DOI: 10.1002/mus.20068

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Mutation analysis of two patients with hypokalemic periodic paralysis and suspected malignant hyperthermiaPMID 15221887Read ↗

Recent advances in the diagnosis of malignant hyperthermia susceptibility: how confident can we be of genetic testing?Semantic proximity Read ↗

Molecular genetic detection of susceptibility to malignant hyperthermia in Belgian families.Semantic proximity Read ↗

Homozygous and heterozygous Arg614Cys mutations (1840C-->T) in the ryanodine receptor gene co-segregate with malignant hyperthermia susceptibility in a German family.Semantic proximity Read ↗

Functional characterization of RYR1 variants identified in malignant hyperthermia susceptible individuals.Semantic proximity Read ↗

Malignant Hyperthermia in Slavonic cohort - clinical and genetic findings beyond standard diagnostics.Semantic proximity Read ↗

Determination of a positive malignant hyperthermia (MH) disposition without the in vitro contracture test in families carrying the RYR1 Arg614Cys mutation.Semantic proximity Read ↗

[Homozygous and compound heterozygous RYR1 mutations. New findings on prevalence and penetrance of malignant hyperthermia].Semantic proximity Read ↗

Guidelines for molecular genetic detection of susceptibility to malignant hyperthermia.Semantic proximity Read ↗

A case of discordance between genotype and phenotype in a malignant hyperthermia family.Semantic proximity Read ↗

Genotype-phenotype comparison of the Swiss malignant hyperthermia population.Semantic proximity Read ↗

Mutation screening in the ryanodine receptor 1 gene (RYR1) in patients susceptible to malignant hyperthermia who show definite IVCT results: identification of three novel mutations.Semantic proximity Read ↗

Ryanodine receptor gene point mutation and malignant hyperthermia susceptibility.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.