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

Novel N-terminal truncating CLCN1 mutation in severe Becker disease.

Muscle & nerve - 1 Nov 2014

Hoche Franziska, Seidel Kay, Barbosa-Sicard Eduardo, Heidegger Tonio, Kang Jun-Suk, Koenig Rainer, Kieslich Matthias

Abstract excerpt

No abstract is available from the source.

Read the complete abstract on PubMed

Topics

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

Share to Adolescent
Share to Chloride Channels
Share to CLCN1 gene
Share to Mutation

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

Share to Myotonia Congenita

Source

Identifiers

PMID: 24920213
DOI: 10.1002/mus.24312

Genes

CLCN1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 23 Oct 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

Novel N-terminal truncating CLCN1 mutation in severe Becker disease.PMID 24920213Read ↗

Gene symbol: CLCN1. Disease: Myotonia congenita.Semantic proximity Read ↗

Novel deep intronic variant in CLCN1 causing autosomal recessive myotonia congenitaSemantic proximity Read ↗

A Novel CLCN1 Gene Mutation Associated with Hypokalemic Periodic Paralysis in a Pregnant Woman.Semantic proximity Read ↗

[The spectrum of CLCN1 gene mutations in patients with nondystrophic Thomsen's and Becker's myotonias].Semantic proximity Read ↗

Spectrum of CLCN1 mutations in patients with myotonia congenita in Northern ScandinaviaSemantic proximity Read ↗

Becker's myotonia: novel mutations and clinical variability in patients born to consanguineous parents.Semantic proximity Read ↗

Clinical and molecular diagnosis of a Costa Rican family with autosomal recessive myotonia congenita (Becker disease) carrying a new mutation in the CLCN1 gene.Semantic proximity Read ↗

Identification of novel mutations of the CLCN1 gene for myotonia congenital in China.Semantic proximity Read ↗

CLCN1 Molecular Characterization in 19 South-Italian Patients With Dominant and Recessive Type of Myotonia CongenitaSemantic 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 ↗

A large cohort of myotonia congenita probands: novel mutations and a high-frequency mutation region in exons 4 and 5 of the CLCN1 gene.Semantic proximity Read ↗

Novel chloride channel gene mutations in two unrelated Japanese families with Becker's autosomal recessive generalized myotonia.Semantic proximity Read ↗

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