The diagnosis and treatment of myotonic disorders (Q38093802)

28 August 2017

title

The diagnosis and treatment of myotonic disorders (English)

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28 August 2017

Chad R Heatwole

1

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28 August 2017

Jeffrey M Statland

series ordinal

2

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28 August 2017

Eric L Logigian

series ordinal

3

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28 August 2017

publication date

27 March 2013

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28 August 2017

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28 August 2017

volume

47

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28 August 2017

issue

5

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28 August 2017

page(s)

632-648

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The skeletal muscle sodium and chloride channel diseases

28 August 2017

cites work

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AAEE minimonograph #27: differential diagnosis of myotonic syndromes

21 January 2018

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Drug treatment for myotonia

21 January 2018

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Myotonia caused by mutations in the muscle chloride channel gene CLCN1.

21 January 2018

1 reference

Skeletal-muscle channelopathies: periodic paralysis and nondystrophic myotonias

21 January 2018

1 reference

Novel insights into the pathomechanisms of skeletal muscle channelopathies

21 January 2018

1 reference

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

21 January 2018

1 reference

The skeletal muscle chloride channel in dominant and recessive human myotonia

21 January 2018

1 reference

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

21 January 2018

1 reference

X-ray structure of a ClC chloride channel at 3.0 A reveals the molecular basis of anion selectivity

21 January 2018

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

21 January 2018

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Different effects on gating of three myotonia-causing mutations in the inactivation gate of the human muscle sodium channel

21 January 2018

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Inactivation defects caused by myotonia-associated mutations in the sodium channel III-IV linker

21 January 2018

1 reference

Functional consequences of a Na+ channel mutation causing hyperkalemic periodic paralysis

21 January 2018

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

21 January 2018

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Pathomechanisms in channelopathies of skeletal muscle and brain

21 January 2018

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Expanded CUG repeats trigger aberrant splicing of ClC-1 chloride channel pre-mRNA and hyperexcitability of skeletal muscle in myotonic dystrophy

21 January 2018

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Reversal of RNA dominance by displacement of protein sequestered on triplet repeat RNA.

21 January 2018

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Redefining the clinical phenotypes of non-dystrophic myotonic syndromes.

21 January 2018

1 reference

The nondystrophic myotonias

21 January 2018

1 reference

An unstable triplet repeat in a gene related to myotonic muscular dystrophy

21 January 2018

1 reference

Myotonic dystrophy mutation: an unstable CTG repeat in the 3' untranslated region of the gene

21 January 2018

1 reference

Severity, type, and distribution of myotonic discharges are different in type 1 and type 2 myotonic dystrophy

21 January 2018

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Confirmation of the type 2 myotonic dystrophy (CCTG)n expansion mutation in patients with proximal myotonic myopathy/proximal myotonic dystrophy of different European origins: a single shared haplotype indicates an ancestral founder effect

21 January 2018

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Myotonic dystrophy type 2 caused by a CCTG expansion in intron 1 of ZNF9

21 January 2018

1 reference

Genetic mapping of a second myotonic dystrophy locus

21 January 2018

1 reference

Myotonic dystrophy: RNA-mediated muscle disease

21 January 2018

1 reference

Report of the 84th ENMC Workshop: PROMM (Proximal Myotonic Myopathy) and Other Myotonic Dystrophy-Like Syndromes: 2nd Workshop. 13–15th October, 2000, Loosdrecht, The Netherlands

21 January 2018

1 reference

Myotonic dystrophy type 2: molecular, diagnostic and clinical spectrum

21 January 2018

1 reference

Myotonic dystrophy type 2 and related myotonic disorders

21 January 2018

1 reference

Neurological channelopathies: diagnosis and therapy in the new millennium

21 January 2018

1 reference

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

21 January 2018

Anaesthesia and myotonia

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Phenotypic variability in myotonia congenita

21 January 2018

1 reference

The dominant chloride channel mutant G200R causing fluctuating myotonia: clinical findings, electrophysiology, and channel pathology

21 January 2018

1 reference

Myotonia levior is a chloride channel disorder.

21 January 2018

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Propagation disturbance of motor unit action potentials during transient paresis in generalized myotonia: a high-density surface EMG study

21 January 2018

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Sodium channel mutations in paramyotonia congenita and hyperkalemic periodic paralysis

21 January 2018

1 reference

21 January 2018

Paramyotonia congenita

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

21 January 2018

1 reference

21 January 2018

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Genotype-phenotype correlations in human skeletal muscle sodium channel diseases

21 January 2018

1 reference

Acetazolamide-responsive myotonia congenita.

21 January 2018

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Linkage of atypical myotonia congenita to a sodium channel locus

21 January 2018

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Correlating phenotype and genotype in the periodic paralyses

21 January 2018

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Refined exercise testing can aid DNA-based diagnosis in muscle channelopathies

21 January 2018

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Cancer risk among patients with myotonic muscular dystrophy

21 January 2018

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Laboratory abnormalities in ambulatory patients with myotonic dystrophy type 1.

21 January 2018

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Laboratory abnormalities in patients with myotonic dystrophy type 2

21 January 2018

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Histopathological differences of myotonic dystrophy type 1 (DM1) and PROMM/DM2

21 January 2018

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Preferential central nucleation of type 2 myofibers is an invariable feature of myotonic dystrophy type 2

21 January 2018

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Myotonic dystrophy type 2: human founder haplotype and evolutionary conservation of the repeat tract

21 January 2018

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Genotype-phenotype correlation and therapeutic rationale in hyperkalemic periodic paralysis

21 January 2018

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Novel mutations in families with unusual and variable disorders of the skeletal muscle sodium channel

21 January 2018

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A novel sodium channel mutation causing a hyperkalemic paralytic and paramyotonic syndrome with variable clinical expressivity

21 January 2018

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

21 January 2018

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

21 January 2018

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Mexiletine is an effective antimyotonia treatment in myotonic dystrophy type 1.

21 January 2018

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Severe neonatal episodic laryngospasm due to de novo SCN4A mutations: a new treatable disorder

21 January 2018

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Human muscle voltage-gated ion channels and hereditary disease

21 January 2018

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Gating of myotonic Na channel mutants defines the response to mexiletine and a potent derivative

21 January 2018

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21 January 2018

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

21 January 2018

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Successful treatment with tocainide of recessive generalized congenital myotonia

21 January 2018

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Antimyotonic therapy with tocainide under ECG control in the myotonic dystrophy of Curschmann-Steinert.

21 January 2018

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Pulmonary fibrosis associated with tocainide: report of a case with literature review

21 January 2018

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21 January 2018

Drug therapy. Tocainide

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

21 January 2018

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Functional consequences of a domain 1/S6 segment sodium channel mutation associated with painful congenital myotonia

21 January 2018

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A comparative study of disopyramide and procainamide in the treatment of myotonia in myotonic dystrophy

21 January 2018

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Therapy of myotonia;: A double-blind evaluation of diphenylhydantoin, procainamide, and placebo

21 January 2018

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The treatment of myotonia: a controlled clinical trial

21 January 2018

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Procainamide for dyspnea in myotonic dystrophy

21 January 2018

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Novel CLCN1 mutation in carbamazepine-responsive myotonia congenita

21 January 2018

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Taurine: an overview of its role in preventive medicine

21 January 2018

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Risk assessment for the amino acids taurine, L-glutamine and L-arginine

21 January 2018

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Imipramine-induced hyperpigmentation: a case report and review of the literature

21 January 2018

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Tricyclic antidepressant pharmacology and therapeutic drug interactions updated

21 January 2018

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Effect of clomipramine on myotonia: a placebo-controlled, double-blind, crossover trial

21 January 2018

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Nifedipine in the treatment of myotonia in myotonic dystrophy

21 January 2018

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Treatment of neuromuscular channelopathies: current concepts and future prospects

21 January 2018

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Acetazolamide acts directly on the human skeletal muscle chloride channel

21 January 2018

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Effects of acetazolamide on myotonia

21 January 2018

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Acetazolamide-induced weakness in paramyotonia congenita

21 January 2018

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Acetazolamide-induced nephrolithiasis: implications for treatment of neuromuscular disorders

21 January 2018

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Dantrolene sodium and dystrophia myotonica

21 January 2018

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Muscle pathology in 57 patients with myotonic dystrophy type 2

21 January 2018

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21 January 2018

Identifiers

DOI

10.1002/MUS.23683

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28 August 2017

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