The non-dystrophic myotonias: molecular pathogenesis, diagnosis and treatment. (Q33570009)

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12 February 2020

review article

1 reference

title

The non-dystrophic myotonias: molecular pathogenesis, diagnosis and treatment (English)

1 reference

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12 February 2020

0 references

0 references

5

1 reference

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M G Hanna

1 reference

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12 February 2020

author name string

E Matthews

1

1 reference

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12 February 2020

D Fialho

2

1 reference

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12 February 2020

S V Tan

3

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12 February 2020

S L Venance

4

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12 February 2020

D Sternberg

6

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12 February 2020

B Fontaine

7

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12 February 2020

A A Amato

8

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12 February 2020

R J Barohn

9

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12 February 2020

R C Griggs

10

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12 February 2020

CINCH Investigators

12

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12 February 2020

language of work or name

English

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publication date

16 November 2009

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12 February 2020

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12 February 2020

volume

133

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12 February 2020

issue

Pt 1

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12 February 2020

page(s)

9-22

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Quantitative myotonia assessment using force relaxation curve modelling.

12 February 2020

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Treatment of neuromuscular channelopathies: current concepts and future prospects

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Neonatal hypotonia can be a sodium channelopathy: recognition of a new phenotype

21 June 2018

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

21 June 2018

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Nav1.4 deregulation in dystrophic skeletal muscle leads to Na overload and enhanced cell death.

21 June 2018

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Trunk sway analysis to quantify the warm-up phenomenon in myotonia congenita patients.

21 June 2018

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Block of persistent late Na currents by antidepressant sertraline and paroxetine

21 June 2018

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Targeted mutation of mouse skeletal muscle sodium channel produces myotonia and potassium-sensitive weakness.

21 June 2018

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State- and use-dependent block of muscle Nav1.4 and neuronal Nav1.7 voltage-gated Na channel isoforms by ranolazine

21 June 2018

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Correction of ClC-1 splicing eliminates chloride channelopathy and myotonia in mouse models of myotonic dystrophy

21 June 2018

1 reference

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Chloride channel myotonia: exon 8 hot-spot for dominant-negative interactions.

21 June 2018

1 reference

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Pathomechanisms in channelopathies of skeletal muscle and brain

21 June 2018

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Class Ic antiarrhythmics block human skeletal muscle Na channel during myotonia-like stimulation

21 June 2018

1 reference

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Drug treatment for myotonia

21 June 2018

1 reference

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The primary periodic paralyses: diagnosis, pathogenesis and treatment

21 June 2018

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Human skeletal muscle sodium channelopathies

21 June 2018

1 reference

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Correlating phenotype and genotype in the periodic paralyses

21 June 2018

1 reference

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Involvement of helices at the dimer interface in ClC-1 common gating

21 June 2018

1 reference

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Functional repair of a mutant chloride channel using a trans-splicing ribozyme

21 June 2018

1 reference

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Loss of the muscle-specific chloride channel in type 1 myotonic dystrophy due to misregulated alternative splicing

21 June 2018

1 reference

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Impairment of slow inactivation as a common mechanism for periodic paralysis in DIIS4-S5

21 June 2018

1 reference

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Spectrum of sodium channel disturbances in the nondystrophic myotonias and periodic paralyses

21 June 2018

1 reference

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A missense mutation in canine C1C-1 causes recessive myotonia congenita in the dog.

21 June 2018

1 reference

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Founder mutations and the high prevalence of myotonia congenita in northern Finland

21 June 2018

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ClC-1 chloride channel mutations in myotonia congenita: variable penetrance of mutations shifting the voltage dependence

21 June 2018

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Myotonia congenita in northern Finland: an epidemiological and genetic study

21 June 2018

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Chloride conductance in mouse muscle is subject to post‐transcriptional compensation of the functional Cl− channel 1 gene dosage

21 June 2018

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Paramyotonia congenita and hyperkalemic periodic paralysis associated with a Met 1592 Val substitution in the skeletal muscle sodium channel alpha subunit--a large kindred with a novel phenotype

21 June 2018

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Paramyotonia congenita: genotype to phenotype correlations in two families and report of a new mutation in the sodium channel gene

21 June 2018

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Mutations in the human skeletal muscle chloride channel gene (CLCN1) associated with dominant and recessive myotonia congenita

21 June 2018

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Molecular basis for decreased muscle chloride conductance in the myotonic goat

21 June 2018

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Mutations in dominant human myotonia congenita drastically alter the voltage dependence of the CIC-1 chloride channel

21 June 2018

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Spectrum of mutations in the major human skeletal muscle chloride channel gene (CLCN1) leading to myotonia

21 June 2018

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Human sodium channel myotonia: slowed channel inactivation due to substitutions for a glycine within the III-IV linker

21 June 2018

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A novel SCN4A mutation causing myotonia aggravated by cold and potassium

21 June 2018

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Sodium channel mutations in acetazolamide-responsive myotonia congenita, paramyotonia congenita, and hyperkalemic periodic paralysis

21 June 2018

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Mutations in the muscle sodium channel gene (SCN4A) in 13 French families with hyperkalemic periodic paralysis and paramyotonia congenita: phenotype to genotype correlations and demonstration of the predominance of two mutations

21 June 2018

1 reference

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Molecular basis of Thomsen's disease (autosomal dominant myotonia congenita).

21 June 2018

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Nonsense and missense mutations of the muscle chloride channel gene in patients with myotonia congenita

21 June 2018

1 reference

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Sodium channel mutations in paramyotonia congenita exhibit similar biophysical phenotypes in vitro

21 June 2018

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Sodium, Potassium, and Chloride Fluxes in Intercostal Muscle from Normal Goats and Goats with Hereditary Myotonia

21 June 2018

1 reference

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Chloride conductance in normal and myotonic muscle fibres and the action of monocarboxylic aromatic acids

21 June 2018

1 reference

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Cable parameters, sodium, potassium, chloride, and water content, and potassium efflux in isolated external intercostal muscle of normal volunteers and patients with myotonia congenita

21 June 2018

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Tocainide associated agranulocytosis

21 June 2018

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Efficacy of phenytoin, procainamide, and tocainide in murine genetic myotonia

21 June 2018

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Acetazolamide-responsive myotonia congenita

21 June 2018

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Paramyotonia congenita: successful treatment with tocainide. Clinical and electrophysiologic findings in seven patients

21 June 2018

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Drug-induced myotonia in human intercostal muscle

21 June 2018

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21 June 2018

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Permanent muscle weakness in familial hypokalaemic periodic paralysis. Clinical, radiological and pathological aspects

21 June 2018

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Hyperkalemic periodic paralysis and the adult muscle sodium channel alpha-subunit gene

21 June 2018

1 reference

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Population frequencies of inherited neuromuscular diseases—A world survey

21 June 2018

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Confirmation of linkage of hyperkalaemic periodic paralysis to chromosome 17

21 June 2018

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Linkage data suggesting allelic heterogeneity for paramyotonia congenita and hyperkalemic periodic paralysis on chromosome 17.

21 June 2018

1 reference

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Identification of a mutation in the gene causing hyperkalemic periodic paralysis

21 June 2018

1 reference

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A Met-to-Val mutation in the skeletal muscle Na channel alpha-subunit in hyperkalaemic periodic paralysis

21 June 2018

1 reference

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Inactivation of muscle chloride channel by transposon insertion in myotonic mice

21 June 2018

1 reference

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Paramyotonia congenita and hyperkalemic periodic paralysis map to the same sodium-channel gene locus

21 June 2018

1 reference

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Analysis in a large hyperkalemic periodic paralysis pedigree supports tight linkage to a sodium channel locus

21 June 2018

1 reference

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The skeletal muscle chloride channel in dominant and recessive human myotonia

21 June 2018

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Dinucleotide repeat polymorphisms at the SCN4A locus suggest allelic heterogeneity of hyperkalemic periodic paralysis and paramyotonia congenita

21 June 2018

1 reference

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Temperature-sensitive mutations in the III–IV cytoplasmic loop region of the skeletal muscle sodium channel gene in paramyotonia congenita

21 June 2018

1 reference

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Myotonia. An evaluation of the chloride hypothesis

21 June 2018

1 reference

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Effects of acetazolamide on myotonia

21 June 2018

1 reference

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Transient muscular weakness in severe recessive myotonia congenita. Improvement of isometric muscle force by drugs relieving myotomic stiffness

21 June 2018

1 reference

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21 June 2018

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Cable properties of external intercostal muscle fibres from myotonic and nonmyotonic goats

21 January 2018

1 reference

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Constrained analogues of tocainide as potent skeletal muscle sodium channel blockers towards the development of antimyotonic agents

21 January 2018

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Difference in allelic expression of the CLCN1 gene and the possible influence on the myotonia congenita phenotype

21 January 2018

1 reference

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Quantification of mobility impairment and self-assessment of stiffness in patients with myotonia congenita by the physiotherapist

21 January 2018

1 reference

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Membrane defects in paramyotonia congenita with and without myotonia in a warm environment

21 January 2018

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The treatment of myotonia: a controlled clinical trial

21 January 2018

1 reference

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What causes paramyotonia in the United Kingdom? Common and new SCN4A mutations revealed

21 January 2018

1 reference

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F413C and A531V but not R894X myotonia congenita mutations cause defective endoplasmic reticulum export of the muscle-specific chloride channel CLC-1.

21 January 2018

1 reference

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Tonische Krämpfe in willkürlich beweglichen Muskeln in Folge von ererbter psychischer Disposition

21 January 2018

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Redefining the clinical phenotypes of non-dystrophic myotonic syndromes

21 January 2018

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Muscle ultrasound measurements and functional muscle parameters in non-dystrophic myotonias suggest structural muscle changes

21 January 2018

1 reference

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New mutations of SCN4A cause a potassium-sensitive normokalemic periodic paralysis

21 January 2018

1 reference

https://api.crossref.org/works/10.1093/BRAIN/AWP294

A new mutation in a family with cold-aggravated myotonia disrupts Na( ) channel inactivation

21 January 2018

1 reference

https://api.crossref.org/works/10.1093/BRAIN/AWP294

Functional consequences of chloride channel gene (CLCN1) mutations causing myotonia congenita.

21 January 2018

1 reference

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Improved therapy of myotonia with the lidocaine derivative tocainide

21 January 2018

1 reference

12 December 2020

Quantitative testing of handgrip strength, myotonia, and fatigue in myotonic dystrophy

1 reference

12 December 2020

The exercise test in periodic paralysis

1 reference

12 December 2020

Adynamia episodica hereditaria with myotonia: a non-inactivating sodium current and the effect of extracellular pH

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12 December 2020

Membrane defects in paramyotonia congenita (Eulenburg)

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12 December 2020

Progressive myotonia in foals resembling human dystrophia myotonica

1 reference

12 December 2020

Progressive myopathy in hyperkalemic periodic paralysis

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12 December 2020

Clinical and electrophysiological reports in a case of early onset myotonia congenita (Thomsen's disease) successfully treated with mexiletine

1 reference

12 December 2020

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12 December 2020

Periodic paralysis in quarter horses: a sodium channel mutation disseminated by selective breeding

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12 December 2020

Severe neonatal non-dystrophic myotonia secondary to a novel mutation of the voltage-gated sodium channel (SCN4A) gene

1 reference

12 December 2020

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

1 reference

12 December 2020

Paramyotonia congenita: abnormal short exercise test, and improvement after mexiletine therapy

1 reference

12 December 2020

Myotonia fluctuans. A third type of muscle sodium channel disease

1 reference

12 December 2020

Paramyotonia congenita without paralysis on exposure to cold: a novel mutation in the SCN4A gene (Val1293Ile)

1 reference

12 December 2020

A novel muscle sodium channel mutation causes painful congenital myotonia

1 reference

12 December 2020

Defective slow inactivation of sodium channels contributes to familial periodic paralysis

1 reference

12 December 2020

Electromyography guides toward subgroups of mutations in muscle channelopathies.

1 reference

12 December 2020

Quantitative analysis of the "warm-up" phenomenon in myotonic dystrophy type 1

1 reference

12 December 2020

A new case of autosomal dominant myotonia associated with the V1589M missense mutation in the muscle sodium channel gene and its phenotypic classification

1 reference

12 December 2020

Autosomal dominant monosymptomatic myotonia permanens

1 reference

12 December 2020

Evaluation of patients with paramyotonia at 23Na MR imaging during cold-induced weakness

1 reference

12 December 2020

Cold extends electromyography distinction between ion channel mutations causing myotonia

1 reference

12 December 2020

Efficacy of propafenone in paramyotonia congenita

1 reference

12 December 2020

A novel mutation of the CLCN1 gene associated with myotonia hereditaria in an Australian cattle dog

1 reference

12 December 2020

Computerized hand grip myometry reliably measures myotonia and muscle strength in myotonic dystrophy (DM1)

1 reference

12 December 2020

Comparative efficacy of repetitive nerve stimulation, exercise, and cold in differentiating myotonic disorders

1 reference

12 December 2020

A "dystrophic" variant of autosomal recessive myotonia congenita caused by novel mutations in the CLCN1 gene

1 reference

12 December 2020

Spectrum of CLCN1 mutations in patients with myotonia congenita in Northern Scandinavia

1 reference

12 December 2020

Myopathy in familial hypokalaemic periodic paralysis independent of paralytic attacks

1 reference

12 December 2020

Identifiers

DOI

10.1093/BRAIN/AWP294

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19917643 AND SRC:MED&resulttype=core&format=json

12 February 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19917643 AND SRC:MED&resulttype=core&format=json

12 February 2020

PubMed publication ID

19917643

1 reference