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

[Compound heterozygous mutations in the muscle chloride channel gene (CLCN1) in a Japanese family with Thomsen's disease].

Rinsho shinkeigaku = Clinical neurology - 1 Jan 2013

Sasaki Ryogen, Takahashi Masanori P, Kokunai Yosuke, Hirayama Masaaki, Ibi Toru, Tomimoto Hidekazu, Mochizuki Hideki, Sahashi Ko

Abstract excerpt

Autosomal-dominant type of myotonia (Thomsen's disease) and autosomal-recessive one (Becker's disease) are caused by mutations in the skeletal muscle voltage-gated chloride channel gene (CLCN1). Clinical manifestation of the diseases ranges from minimum to severely disabling myotonia. We report a Japanese family with Thomsen's disease, featuring an index female young patient who possesses two dominantly-inherited...

Read the complete abstract on PubMed

Topics

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

Share to Chloride Channels
Share to CLCN1 gene

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Gene Dosage

Share to Heterozygote

Share to Mutation

Share to Myotonia Congenita

Share to Young Adult

Source

Identifiers

PMID: 23603549
DOI: 10.5692/clinicalneurol.53.316

Genes

CLCN1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

[Compound heterozygous mutations in the muscle chloride channel gene (CLCN1) in a Japanese family with Thomsen's disease].PMID 23603549Read ↗

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

[A pedigree of myotonia congenita with a novel mutation p.F343C of the CLCN1 gene].Semantic proximity Read ↗

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

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

[Analysis of CLCN1 gene mutations in a family affected with myotonia congenita].Semantic proximity Read ↗

[Analysis of CLCN1 gene mutations in 2 patients with myotonia congenita].Semantic proximity Read ↗

[Frequency and causes of prevalence of p.Arg894* mutation in CLCN1 gene responsible for development of Thomsen's and Becker's myotonias in Russian population].Semantic proximity Read ↗

Novel chloride channel gene mutations in two unrelated Chinese families with myotonia congenita.Semantic proximity Read ↗

Identification of five new mutations and three novel polymorphisms in the muscle chloride channel gene (CLCN1) in 20 Italian patients with dominant and recessive myotonia congenita. Mutations in brief no. 118. Online.Semantic proximity Read ↗

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

Mutation spectrum and health status in skeletal muscle channelopathies in Japan.Semantic proximity Read ↗

Thomsen or Becker myotonia? A novel autosomal recessive nonsense mutation in the CLCN1 gene associated with a mild phenotype.Semantic proximity Read ↗

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