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

Recessive CLCN1 mutation presenting as Thomsen disease.

Muscle & nerve - 1 Nov 2008

Thomas Judy, Tarleton Jack, Baker Steven K

Abstract excerpt

This case report describes a young man referred for electrodiagnostic evaluation for hand stiffness and intermittent numbness. His needle electromyography revealed diffusely increased insertional and spontaneous motor activity in the form of myotonic discharges. Given the finding of symptomatic myotonia also in his mother, Thomsen myotonia was suspected. Investigations not only confirmed Thomsen myotonia, but...

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 DNA Mutational Analysis

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

Share to CLCN1 gene

Share to Genes, Recessive

Share to Mutation

Share to Myotonia Congenita

Source

Identifiers

PMID: 18816629
DOI: 10.1002/mus.21121

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

Recessive CLCN1 mutation presenting as Thomsen disease.PMID 18816629Read ↗

Novel mutations in the CLCN1 gene of myotonia congenita: 2 case reports.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 ↗

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

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

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

Clinical and genetic characteristics of myotonia congenita in Chinese population.Semantic proximity Read ↗

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

From clinical to molecular diagnosis: relevance of the MLPA in one case of recessive myotonia congenita – case reportSemantic proximity Read ↗

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

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

Myotonia congenita and periodic hypokalemia paralysis in a consanguineous marriage pedigree: Coexistence of a novel CLCN1 mutation and an SCN4A mutation.Semantic proximity Read ↗

Association of Three Different Mutations in the CLCN1 Gene Modulating the Phenotype in a Consanguineous Family with Myotonia Congenita.Semantic proximity Read ↗

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