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

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

Kidney international - 1 Mar 2000

Fahlke C

Abstract excerpt

The muscle Cl- channel, ClC-1, is a member of the ClC family of voltage-gated Cl- channels. Mutations in CLCN1, the gene encoding this channel, cause two forms of inherited human muscle disorders: recessive generalized myotonia congenita (Becker) and dominant myotonia (Thomsen). The functional characterization of these naturally occurring mutations not only allowed a better understanding of the pathophysiology of...

Read the complete abstract on PubMed

Topics

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

Share to Amino Acid Sequence
Share to Anions
Share to Chloride Channels

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

Share to CLCN1 gene

Share to Models, Biological

Share to Mutation

Source

Identifiers

PMID: 10720929
DOI: 10.1046/j.1523-1755.2000.00915.x

Genes

CLCN1

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

Molecular mechanisms of ion conduction in ClC-type chloride channels: lessons from disease-causing mutations.PMID 10720929Read ↗

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

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

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

Characterization of two new dominant ClC-1 channel mutations associated with myotonia.Semantic proximity Read ↗

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

Electrophysiological characteristics of six mutations in hClC-1 of Korean patients with myotonia congenita.Semantic proximity Read ↗

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

Structure of the human ClC-1 chloride channelSemantic proximity Read ↗

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

CLC Chloride Channels and Transporters: Structure, Function, Physiology, and Disease.Semantic proximity Read ↗

Clinical, Molecular, and Functional Characterization of CLCN1 Mutations in Three Families with Recessive Myotonia CongenitaSemantic proximity Read ↗

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

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