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

Phenotypic variation of a Thr704Met mutation in skeletal sodium channel gene in a family with paralysis periodica paramyotonica.

Journal of neurology, neurosurgery, and psychiatry - 1 May 2001

Kim J, Hahn Y, Sohn E H, Lee Y J, Yun J H, Kim J M, Chung J H

Abstract excerpt

OBJECTIVES: Patients with paralysis periodica paramyotonica exhibit a clinical syndrome with characteristics of both hyperkalaemic periodic paralysis and paramyotonia congenita. In several types of periodic paralysis associated with hyperkalaemia, mutations in the skeletal muscle sodium channel (SCN4A) gene have been previously reported. Phenotypic variations of mutations in SCN4A, however, have not been...

Read the complete abstract on PubMed

Topics

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

Share to Child, Preschool
Share to Electromyography

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

Share to Muscles

Share to NAV1.4 Voltage-Gated Sodium Channel

Share to Pedigree

Share to Polymorphism, Restriction Fragment Length

Share to Sodium Channels

Source

Open in PubMed Open full text

Identifiers

PMID: 11309455
DOI: 10.1136/jnnp.70.5.618
PMCID: PMC1737343

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. Graph snapshot: 2026-09-29.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Phenotypic variation of a Thr704Met mutation in skeletal sodium channel gene in a family with paralysis periodica paramyotonica.PMID 11309455Read ↗

Paralysis periodica paramyotonica caused by SCN4A Arg1448Cys mutation.Semantic proximity Read ↗

Novel SCN4A Variants Associated With Myalgic Myotonic Disorder or Paramyotonia.Semantic proximity Read ↗

A novel mutation in the gene for the adult skeletal muscle sodium channel alpha-subunit (SCN4A) that causes paramyotonia congenita of von Eulenburg.Semantic proximity Read ↗

Severe infantile hyperkalaemic periodic paralysis and paramyotonia congenita: broadening the clinical spectrum associated with the T704M mutation in SCN4A.Semantic proximity Read ↗

Mutations in the muscle sodium channel gene (SCN4A) in 13 French families with hyperkalemic periodic paralysis and paramyotonia congenita: phenotype to genotype correlations and demonstration of the predominance of two mutations.Semantic proximity Read ↗

Sodium channel mutations in paramyotonia congenita and hyperkalemic periodic paralysis.Semantic proximity Read ↗

Phenotypic variation of Val1589Met mutation in a four-generation Chinese pedigree with mild paramyotonia congenitia: case report.Semantic proximity Read ↗

A case of paramyotonia congenita without periodic paralysis: electrophysiological and molecular genetic studies.Semantic proximity Read ↗

A new case of autosomal dominant myotonia associated with the V1589M missense mutation in the muscle sodium channel gene and its phenotypic classification.Semantic proximity Read ↗

What causes paramyotonia in the United Kingdom? Common and new SCN4A mutations revealed.Semantic proximity Read ↗

A Korean family with Arg1448Cys mutation of SCN4A channel causing paramyotonia congenita: electrophysiologic, histopathologic, and molecular genetic studies.Semantic proximity Read ↗

Novel mutations in families with unusual and variable disorders of the skeletal muscle sodium channel.Semantic proximity Read ↗

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