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Myotonia congenita
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instance of
scholarly article
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review article
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stated in
Europe PubMed Central
title
Myotonia congenita
(English)
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author
Christoph Lossin
series ordinal
1
object named as
Christoph Lossin
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author name string
Alfred L George
series ordinal
2
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language of work or name
English
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publication date
2008
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published in
Advances in Genetics
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volume
63
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page(s)
25-55
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cites work
Secondary active transport mediated by a prokaryotic homologue of ClC Cl- channels.
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On the repetitive discharge in myotonic muscle fibres
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Efficacy of phenytoin, procainamide, and tocainide in murine genetic myotonia.
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Prolonged myotonia and dystonia after general anaesthesia in a patient taking gabapentin.
1 reference
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Myotonia
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Molecular basis for decreased muscle chloride conductance in the myotonic goat
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Mechanisms of toxicity, clinical features, and management of acute chlorophenoxy herbicide poisoning: a review
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Chemically induced myotonia in amphibia
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Antimalarial activity of natural, racemic and unnatural dihydroquinine, dihydroquinidine and their various racemic analogs in mice infected withPlasmodium berghei
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Pharmacology of Hearing and Ototoxicity
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Identification of three novel mutations in the major human skeletal muscle chloride channel gene (CLCN1), causing myotonia congenita
1 reference
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Chloride conductance in normal and myotonic muscle fibres and the action of monocarboxylic aromatic acids
1 reference
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Constrained analogues of tocainide as potent skeletal muscle sodium channel blockers towards the development of antimyotonic agents
1 reference
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inferred from DOI database lookup
Different fast-gate regulation by external Cl(-) and H(+) of the muscle-type ClC chloride channels
1 reference
stated in
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reference URL
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retrieved
7 January 2021
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inferred from DOI database lookup
Exon 17 skipping in CLCN1 leads to recessive myotonia congenita
1 reference
stated in
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7 January 2021
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Phenotypic variability in myotonia congenita
1 reference
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inferred from DOI database lookup
Decrement of compound muscle action potential is related to mutation type in myotonia congenita
1 reference
stated in
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inferred from DOI database lookup
The effects of taurine on pharmacologically induced myotonia
1 reference
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7 January 2021
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inferred from DOI database lookup
Novel mutations in the muscle chloride channel CLCN1 gene causing myotonia congenita in Spanish families
1 reference
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Crossref
reference URL
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retrieved
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based on heuristic
inferred from DOI database lookup
Transient weakness and compound muscle action potential decrement in myotonia congenita
1 reference
stated in
Crossref
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based on heuristic
inferred from DOI database lookup
Difference in allelic expression of the CLCN1 gene and the possible influence on the myotonia congenita phenotype
1 reference
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X-ray structure of a ClC chloride channel at 3.0 A reveals the molecular basis of anion selectivity
1 reference
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Gating the selectivity filter in ClC chloride channels
1 reference
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Crossref
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Identification of two mutations and a polymorphism in the chloride channel CLCN-1 in patients with Becker's generalized myotonia
1 reference
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An aspartic acid residue important for voltage-dependent gating of human muscle chloride channels
1 reference
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inferred from DOI database lookup
Mechanism of voltage-dependent gating in skeletal muscle chloride channels
1 reference
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inferred from DOI database lookup
A mutation in autosomal dominant myotonia congenita affects pore properties of the muscle chloride channel
1 reference
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Mechanism of ion permeation in skeletal muscle chloride channels
1 reference
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Subunit stoichiometry of human muscle chloride channels
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Anaesthetic complications associated with myotonia congenita: case study and comparison with other myotonic disorders
1 reference
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Chloride channel myotonia: exon 8 hot-spot for dominant-negative interactions.
1 reference
stated in
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inferred from DOI database lookup
Non-genomic effects of sex hormones on CLC-1 may contribute to gender differences in myotonia congenita
1 reference
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Crossref
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The pathophysiology of myotonia produced by aromatic carboxylic acids
1 reference
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Molecular basis of Thomsen's disease (autosomal dominant myotonia congenita).
1 reference
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Modifications of gene expression in myotonic murine skeletal muscle are associated with abnormal expression of myogenic regulatory factors
1 reference
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Crossref
reference URL
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7 January 2021
based on heuristic
inferred from DOI database lookup
Myotonia congenita
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0065-2660%2808%2901002-X
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Single chloride channels from Torpedo electroplax. Activation by protons
1 reference
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7 January 2021
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Malignant hyperthermia in myotonia congenita
1 reference
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reference URL
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7 January 2021
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inferred from DOI database lookup
Myotonia, a new inherited muscle disease in mice
1 reference
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Crossref
reference URL
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retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Proof of a non-functional muscle chloride channel in recessive myotonia congenita (Becker) by detection of a 4 base pair deletion
1 reference
stated in
Crossref
reference URL
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7 January 2021
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inferred from DOI database lookup
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1 reference
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7 January 2021
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inferred from DOI database lookup
The genes for two neuromuscular diseases of the mouse, 'arrested development of righting response', adr, and 'myotonia', mto, are allelic
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0065-2660%2808%2901002-X
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Novel CLCN1 mutations in Taiwanese patients with myotonia congenita
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0065-2660%2808%2901002-X
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
The skeletal muscle chloride channel in dominant and recessive human myotonia
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0065-2660%2808%2901002-X
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Myotonia and the muscle chloride channel: dominant mutations show variable penetrance and founder effect
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0065-2660%2808%2901002-X
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
ClC-1 chloride channel mutations in myotonia congenita: variable penetrance of mutations shifting the voltage dependence.
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0065-2660%2808%2901002-X
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
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1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0065-2660%2808%2901002-X
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Myotonia induced by chemical agents
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0065-2660%2808%2901002-X
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
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1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0065-2660%2808%2901002-X
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Myotonia levior is a chloride channel disorder.
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0065-2660%2808%2901002-X
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Sodium, Potassium, and Chloride Fluxes in Intercostal Muscle from Normal Goats and Goats with Hereditary Myotonia
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0065-2660%2808%2901002-X
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Genomic organization of the human muscle chloride channel CIC-1 and analysis of novel mutations leading to Becker-type myotonia.
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0065-2660%2808%2901002-X
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Expanded CUG repeats trigger aberrant splicing of ClC-1 chloride channel pre-mRNA and hyperexcitability of skeletal muscle in myotonic dystrophy
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0065-2660%2808%2901002-X
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
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1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0065-2660%2808%2901002-X
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Activity-induced weakness in recessive myotonia congenita with a novel (696+1G>A) mutation
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0065-2660%2808%2901002-X
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
A recurrent 14 bp deletion in the CLCN1 gene associated with generalized myotonia (Becker)
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0065-2660%2808%2901002-X
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Open-state substructure of single chloride channels from Torpedo electroplax
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0065-2660%2808%2901002-X
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Dimeric structure of single chloride channels from Torpedo electroplax
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0065-2660%2808%2901002-X
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Myotonia and block of chloride conductance by iodide in avian muscle
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0065-2660%2808%2901002-X
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Therapy of myotonia;: A double-blind evaluation of diphenylhydantoin, procainamide, and placebo
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0065-2660%2808%2901002-X
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
A "dystrophic" variant of autosomal recessive myotonia congenita caused by novel mutations in the CLCN1 gene
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0065-2660%2808%2901002-X
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
The effect of dehydroepiandrosterone sulfate (DHEAS) on myotonia: intracellular studies
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0065-2660%2808%2901002-X
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Single-channel analysis of a ClC-2-like chloride conductance in cultured rat cortical astrocytes
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0065-2660%2808%2901002-X
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
On the inhibition of muscle membrane chloride conductance by aromatic carboxylic acids
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0065-2660%2808%2901002-X
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Founder mutations and the high prevalence of myotonia congenita in northern Finland
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0065-2660%2808%2901002-X
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
F413C and A531V but not R894X myotonia congenita mutations cause defective endoplasmic reticulum export of the muscle-specific chloride channel CLC-1.
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0065-2660%2808%2901002-X
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Chloride/proton antiporter activity of mammalian CLC proteins ClC-4 and ClC-5.
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0065-2660%2808%2901002-X
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Effects of chronic treatment with statins and fenofibrate on rat skeletal muscle: a biochemical, histological and electrophysiological study
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0065-2660%2808%2901002-X
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Novel muscle chloride channel (CLCN1) mutations in myotonia congenita with various modes of inheritance including incomplete dominance and penetrance
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0065-2660%2808%2901002-X
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Low single channel conductance of the major skeletal muscle chloride channel, ClC-1.
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0065-2660%2808%2901002-X
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Mutations in dominant human myotonia congenita drastically alter the voltage dependence of the CIC-1 chloride channel
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0065-2660%2808%2901002-X
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Pharmacological characterization of chloride channels belonging to the ClC family by the use of chiral clofibric acid derivatives.
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0065-2660%2808%2901002-X
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
A missense mutation in canine C1C-1 causes recessive myotonia congenita in the dog.
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0065-2660%2808%2901002-X
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Myotonia fluctuans. A third type of muscle sodium channel disease
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0065-2660%2808%2901002-X
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Functional repair of a mutant chloride channel using a trans-splicing ribozyme
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0065-2660%2808%2901002-X
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Improved therapy of myotonia with the lidocaine derivative tocainide
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0065-2660%2808%2901002-X
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Transient weakness and altered membrane characteristic in recessive generalized myotonia (Becker)
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0065-2660%2808%2901002-X
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Permeation and block of the skeletal muscle chloride channel, ClC-1, by foreign anions
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0065-2660%2808%2901002-X
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Novel chloride channel gene mutations in two unrelated Japanese families with Becker's autosomal recessive generalized myotonia
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0065-2660%2808%2901002-X
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
A novel CLCN1 mutation: P480T in a Japanese family with Thomsen's myotonia congenita
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0065-2660%2808%2901002-X
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
The muscle chloride channel ClC-1 has a double-barreled appearance that is differentially affected in dominant and recessive myotonia
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0065-2660%2808%2901002-X
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Myotonia congenita--a successful response to carbamazepine
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0065-2660%2808%2901002-X
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Characterization of three myotonia-associated mutations of the CLCN1 chloride channel gene via heterologous expression
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0065-2660%2808%2901002-X
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Inheritance of three distinct muscle chloride channel gene (CLCN1) mutations in a single recessive myotonia congenita family
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0065-2660%2808%2901002-X
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Electrical myotonia of rabbit skeletal muscles by HMG-CoA reductase inhibitors
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0065-2660%2808%2901002-X
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Exaggerated physiological responses to propofol in myotonic dystrophy.
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0065-2660%2808%2901002-X
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Inactivation of muscle chloride channel by transposon insertion in myotonic mice
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0065-2660%2808%2901002-X
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Primary structure and functional expression of a developmentally regulated skeletal muscle chloride channel
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0065-2660%2808%2901002-X
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Multimeric structure of ClC-1 chloride channel revealed by mutations in dominant myotonia congenita (Thomsen)
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0065-2660%2808%2901002-X
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
AAEE minimonograph #27: differential diagnosis of myotonic syndromes
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0065-2660%2808%2901002-X
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Spectrum of CLCN1 mutations in patients with myotonia congenita in Northern Scandinavia
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0065-2660%2808%2901002-X
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Tonische Krämpfe in willkürlich beweglichen Muskeln in Folge von ererbter psychischer Disposition
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0065-2660%2808%2901002-X
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Quinidine as a cause of sudden death
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0065-2660%2808%2901002-X
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Drug treatment for myotonia
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0065-2660%2808%2901002-X
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
In tandem analysis of CLCN1 and SCN4A greatly enhances mutation detection in families with non-dystrophic myotonia
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0065-2660%2808%2901002-X
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Na+-K+-ATPase is not involved in the warming-up phenomenon in generalized myotonia
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0065-2660%2808%2901002-X
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
The dominant chloride channel mutant G200R causing fluctuating myotonia: clinical findings, electrophysiology, and channel pathology
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0065-2660%2808%2901002-X
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Extraocular muscle hypertrophy in myotonia congenita
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0065-2660%2808%2901002-X
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Novel CLCN1 mutations with unique clinical and electrophysiological consequences.
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0065-2660%2808%2901002-X
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Mutations in the human skeletal muscle chloride channel gene (CLCN1) associated with dominant and recessive myotonia congenita
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0065-2660%2808%2901002-X
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Mechanism of inverted activation of ClC-1 channels caused by a novel myotonia congenita mutation
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0065-2660%2808%2901002-X
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
The toxic effects of clofibrate and its metabolite on mammalian skeletal muscle: an electrophysiological study
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0065-2660%2808%2901002-X
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
A functional psychosis precipitated by quinidine
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0065-2660%2808%2901002-X
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Identifiers
DOI
10.1016/S0065-2660(08)01002-X
1 reference
stated in
Consolidated OpenCitations Corpus – April 2017
OpenCitations bibliographic resource ID
3767140
OpenCitations bibliographic resource ID
3767140
1 reference
stated in
Consolidated OpenCitations Corpus – April 2017
OpenCitations bibliographic resource ID
3767140
PubMed ID
19185184
1 reference
stated in
Consolidated OpenCitations Corpus – April 2017
OpenCitations bibliographic resource ID
3767140
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