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

Dominantly inherited proximal myotonic myopathy and leukoencephalopathy in a family with an incidental CLCN1 mutation.

Journal of neurology, neurosurgery, and psychiatry - 1 Apr 1998

Mastaglia F L, Harker N, Phillips B A, Day T J, Hankey G J, Laing N G, Fabian V, Kakulas B A

Abstract excerpt

A two generation family of Greek origin with mild myotonia, predominantly proximal muscle weakness, and cataracts compatible with the syndrome of proximal myotonic myopathy, is reported. In addition, brain MRI showed a diffuse leukoencephalopathy in the propositus. Molecular genetic studies showed the R894X mutation in exon 23 of the muscle chloride channel gene in the propositus but in only one of her two...

Read the complete abstract on PubMed

Topics

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

Share to Abnormalities, Multiple
Share to Adolescent

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Chloride Channels

Share to Genes, Dominant

Share to Magnetic Resonance Imaging

Share to Muscle Proteins

Share to Mutation

Share to Syndrome

Source

Open in PubMed Open full text

Identifiers

PMID: 9576553
DOI: 10.1136/jnnp.64.4.543
PMCID: PMC2170056

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.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Dominantly inherited proximal myotonic myopathy and leukoencephalopathy in a family with an incidental CLCN1 mutation.PMID 9576553Read ↗

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

Spectrum of mutations in the major human skeletal muscle chloride channel gene (CLCN1) leading to myotonia.Semantic proximity Read ↗

Identification and Functional Characterization of CLCN1 Mutations Found in Nondystrophic Myotonia Patients.Semantic proximity Read ↗

Myotonia congenita: novel mutations in CLCN1 gene and functional characterizations in Italian patients.Semantic proximity Read ↗

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

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

PROMM: the expanding phenotype. A family with proximal myopathy, myotonia and deafness.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 ↗

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.