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

High frequency of co-segregating CLCN1 mutations among myotonic dystrophy type 2 patients from Finland and Germany.

Journal of neurology - 1 Nov 2008

Suominen T, Schoser B, Raheem O, Auvinen S, Walter M, Krahe R, Lochmüller H, Kress W, Udd B

Abstract excerpt

Based on previous reports the frequency of co-segregating recessive chloride channel (CLCN1) mutations in families with myotonic dystrophy type 2 (DM2) was suspected to be increased. We have studied the frequency of CLCN1 mutations in two separate patient and control cohorts from Germany and Finland, and for comparison in a German myotonic dystrophy type 1 (DM1) patient cohort. The frequency of heterozygous...

Read the complete abstract on PubMed

Topics

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

Share to Aged
Share to Chloride Channels
Share to Finland

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Gene Frequency

Share to Germany

Share to Mutation

Share to Myotonic Dystrophy

Share to Phenotype

Source

Open in PubMed Open full text

Identifiers

PMID: 18807109
DOI: 10.1007/s00415-008-0010-z
PMCID: PMC4079033

Genes

CLCN1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

High frequency of co-segregating CLCN1 mutations among myotonic dystrophy type 2 patients from Finland and Germany.PMID 18807109Read ↗

Population frequency of myotonic dystrophy: higher than expected frequency of myotonic dystrophy type 2 (DM2) mutation in Finland.Semantic proximity Read ↗

Co-occurrence of DMPK expansion and CLCN1 mutation in a patient with myotonia.Semantic proximity Read ↗

In tandem analysis of CLCN1 and SCN4A greatly enhances mutation detection in families with non-dystrophic myotonia.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 ↗

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 ↗

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

Spectrum of CLCN1 mutations in patients with myotonia congenita in Northern Scandinavia.Semantic proximity Read ↗

Inheritance of three distinct muscle chloride channel gene (CLCN1) mutations in a single recessive myotonia congenita family.Semantic proximity Read ↗

Novel mutations in the muscle chloride channel CLCN1 gene causing myotonia congenita in Spanish families.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 ↗

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

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