A recurrent 14 bp deletion in the CLCN1 gene associated with generalized myotonia (Becker).

No abstract is available for this paper.

• Publication year

  1994

• Venue

  Human Molecular Genetics

• Publication date

  1994-06-01

• Fields of study

  Biology, Medicine

• Identifiers
  DOI 10.1093/HMG/3.6.1015PMID 7951215
• External record

  Open on Semantic Scholar

• Source metadata

  Semantic Scholar, PubMed

• No claims are published for this paper.

• No concepts are published for this paper.

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  1994cited by this paper
• Evidence for genetic homogeneity in autosomal recessive generalised myotonia (Becker).

  1993cited by this paper
• Molecular basis of Thomsen's disease (autosomal dominant myotonia congenita)

  1993cited by this paper
• Linkage of Thomsen disease to the T-cell-receptor beta (TCRB) locus on chromosome 7q35.

  1992cited by this paper
• Inactivation of muscle chloride channel by transposon insertion in myotonic mice

  1991cited by this paper
• Gene deletions causing human genetic disease: mechanisms of mutagenesis and the role of the local DNA sequence environment

  1991cited by this paper
• Transient weakness and altered membrane characteristic in recessive generalized myotonia (Becker)

  1988cited by this paper
• A comprehensive set of sequence analysis programs for the VAX

  1984cited by this paper
• Structural intermediates of deletion mutagenesis: a role for palindromic DNA.

  1984cited by this paper
• On the formation of spontaneous deletions: the importance of short sequence homologies in the generation of large deletions.

  1982cited by this paper
• The structure and evolution of the human beta-globin gene family.

  1980cited by this paper
• Cable parameters, sodium, potassium, chloride, and water content, and potassium efflux in isolated external intercostal muscle of normal volunteers and patients with myotonia congenita.

  1971cited by this paper

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• Molecular pathophysiology of voltage-gated ion channels . Chapter 128 in : Reviews of Physiology Biochemistry and Pharmacology 1996

  2013influential citation
• The diagnosis and treatment of myotonic disorders

  2013cites this paper
• The spectrum of CLCN1 gene mutations in patients with nondystrophic Thomsen’s and Becker’s myotonias

  2012cites this paper
• A new explanation for recessive myotonia congenita

  2012cites this paper
• Myotonia congenita.

  2008cites this paper
• In tandem analysis of CLCN1 and SCN4A greatly enhances mutation detection in families with non-dystrophic myotonia

  2008cites this paper
• Phenotypic variability in myotonia congenita

  2005cites this paper
• Decrement of compound muscle action potential is related to mutation type in myotonia congenita

  2003cites this paper
• Genetic disorders of neuromuscular ion channels

  2002cites this paper
• Myotonia caused by mutations in the muscle chloride channel gene CLCN1

  2002cites this paper
• A novel CLCN1 mutation: P480T in a Japanese family with Thomsen's myotonia congenita

  2001cites this paper
• Mechanism of Inverted Activation of ClC-1 Channels Caused by a Novel Myotonia Congenita Mutation*

  2000cites this paper
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  2000cites this paper
• [Spontaneous electromyographic activity. Practical importance].

  2000cites this paper
• Novel chloride channel gene mutations in two unrelated Japanese families with Becker's autosomal recessive generalized myotonia.

  1999cites this paper
• Novel mutations in the muscle chloride channel CLCN1 gene causing myotonia congenita in Spanish families

  1999cites this paper
• Voltage-gated ion channels and hereditary disease.

  1999cites this paper
• The familial periodic paralyses and nondystrophic myotonias.

  1998cites this paper
• ClC-1 chloride channel mutations in myotonia congenita: variable penetrance of mutations shifting the voltage dependence.

  1998cites this paper
• Diseases caused by voltage-gated ion channels.

  1997cites this paper
• REVIEW ■ : Chloride Channel Myotonias

  1996cites this paper
• Novel muscle chloride channel mutations and their effects on heterozygous carriers.

  1996cites this paper
• Molecular pathophysiology of voltage-gated ion channels.

  1996cites this paper
• Mutations in the human skeletal muscle chloride channel gene (CLCN1) associated with dominant and recessive myotonia congenita

  1996cites this paper
• Spectrum of mutations in the major human skeletal muscle chloride channel gene (CLCN1) leading to myotonia.

  1995cites this paper
• The skeletal muscle sodium and chloride channel diseases.

  1995cites this paper
• Properties of voltage‐gated chloride channels of the ClC gene family.

  1995cites this paper
• Myotonia levior is a chloride channel disorder.

  1995cites this paper
• Hereditary nondystrophic myotonias and periodic paralyses.

  1995cites this paper
• Mutations in dominant human myotonia congenita drastically alter the voltage dependence of the CIC-1 chloride channel.

  1995cites this paper
• Genomic organization of the human muscle chloride channel CIC-1 and analysis of novel mutations leading to Becker-type myotonia.

  1994cites this paper
• Molecular physiology of voltage-gated chloride channels.

  1994cites this paper
• Nonsense and missense mutations of the muscle chloride channel gene in patients with myotonia congenita.

  1994cites this paper