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

Multimeric structure of ClC-1 chloride channel revealed by mutations in dominant myotonia congenita (Thomsen).

The EMBO journal - 15 Feb 1994

Steinmeyer K, Lorenz C, Pusch M, Koch M C, Jentsch T J

Abstract excerpt

Voltage-gated ClC chloride channels play important roles in cell volume regulation, control of muscle excitability, and probably transepithelial transport. ClC channels can be functionally expressed without other subunits, but it is unknown whether they function as monomers. We now exploit the pr...

Topics

Amino Acid Sequence
Animals
Base Sequence
Cell Line
Chloride Channels
Cloning, Molecular
DNA, Complementary
Female
Genes, Dominant
Humans
Male
Molecular Sequence Data

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Mutation

Myotonia Congenita

Pedigree

Protein Conformation

Sequence Homology, Amino Acid

Source

Open in PubMed Open full text

Identifiers

PMID: 8112288
DOI: 10.1002/j.1460-2075.1994.tb06315.x
PMCID: PMC394869

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026. Prepared record publication-8112288-2026-08-30.1. Manifest publication-graph-cohort-2026-08-30.1.

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

Community interpretation

Discuss the evidence

Ask a question, add context or challenge an interpretation. Community activity is separate from scientific evidence strength.

0

discussions

0

replies

Citations encouraged

Claims remain attributable.

No discussion yet

Be the first to add a careful, cited interpretation.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Multimeric structure of ClC-1 chloride channel revealed by mutations in dominant myotonia congenita (Thomsen).PMID 8112288Read ↗

Multidisciplinary study of a new ClC-1 mutation causing myotonia congenita: a paradigm to understand and treat ion channelopathies.Semantic proximity Read ↗

CLCN1 mutations in Czech patients with myotonia congenita, in silico analysis of novel and known mutations in the human dimeric skeletal muscle chloride channel.Semantic proximity Read ↗

ClC-1 chloride channel mutations in myotonia congenita: variable penetrance of mutations shifting the voltage dependence.Semantic proximity Read ↗

ClC-1 mutations in myotonia congenita patients: insights into molecular gating mechanisms and genotype-phenotype correlation.Semantic proximity Read ↗

Myotonia congenita mutation enhances the degradation of human CLC-1 chloride channels.Semantic proximity Read ↗

Physiology and pathophysiology of CLC-1: mechanisms of a chloride channel disease, myotonia.Semantic proximity Read ↗

ClC-1 chloride channels: state-of-the-art research and future challengesSemantic proximity Read ↗

Disease-causing mutations C277R and C277Y modify gating of human ClC-1 chloride channels in myotonia congenita.Semantic proximity Read ↗

Myotonia caused by mutations in the muscle chloride channel gene CLCN1.Semantic proximity Read ↗

The analysis of myotonia congenita mutations discloses functional clusters of amino acids within the CBS2 domain and the C-terminal peptide of the ClC-1 channel.Semantic proximity Read ↗

ClC-1 Chloride Channel: Inputs on the Structure–Function Relationship of Myotonia Congenita-Causing MutationsSemantic proximity Read ↗

Molecular mechanisms of ion conduction in ClC-type chloride channels: lessons from disease-causing mutations.Semantic proximity Read ↗

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