Myotonic disorders: A review article (Q26747746)

Iranian Journal of Neurology

Europe PubMed Central

title

Myotonic disorders: A review article (English)

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1 reference

Chris Hahn

1

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Mohammad Kian Salajegheh

series ordinal

2

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language of work or name

English

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publication date

5 January 2016

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published in

1 reference

Psychostimulants for hypersomnia (excessive daytime sleepiness) in myotonic dystrophy

volume

15

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issue

1

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page(s)

46-53

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cites work

1 reference

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Population frequency of myotonic dystrophy: higher than expected frequency of myotonic dystrophy type 2 (DM2) mutation in Finland

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Absent, unrecognized, and minimal myotonic discharges in myotonic dystrophy type 2.

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

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Myotonic dystrophy type 2 found in two of sixty-three persons diagnosed as having fibromyalgia

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

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Clinical and molecular aspects of the myotonic dystrophies: a review.

28 September 2017

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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

28 September 2017

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Apathy and hypersomnia are common features of myotonic dystrophy

28 September 2017

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Daytime sleep in myotonic dystrophy is not caused by sleep apnoea

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The autosomal recessive (Becker) form of myotonia congenita

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28 September 2017

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Hypogonadism and erectile dysfunction in myotonic dystrophy type 1.

28 September 2017

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Dramatic improvement of myotonia permanens with flecainide: a two-case report of a possible bench-to-bedside pharmacogenetics strategy

31 May 2018

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Bacterial overgrowth syndrome in myotonic muscular dystrophy is potentially treatable

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31 May 2018

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28 November 2018

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Myotonic dystrophy type 2 (DM2) and related disorders

28 November 2018

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Peripheral neuropathy in myotonic dystrophy type 1.

28 November 2018

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

28 November 2018

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Strong association between myotonic dystrophy type 2 and autoimmune diseases

28 November 2018

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Modafinil for the treatment of hypersomnia associated with myotonic muscular dystrophy in adults: a multicenter, prospective, randomized, double-blind, placebo-controlled, 4-week trial

28 November 2018

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

28 November 2018

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Redefining the clinical phenotypes of non-dystrophic myotonic syndromes.

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Dysphagia is present but mild in myotonic dystrophy type 2.

28 November 2018

1 reference

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Gastrointestinal involvement is frequent in Myotonic Dystrophy type 2.

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CTG expansion & haplotype analysis in DM1 gene in healthy Iranian population.

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

28 November 2018

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Hyper-CK-emia as the sole manifestation of myotonic dystrophy type 2.

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Executive dysfunction and avoidant personality trait in myotonic dystrophy type 1 (DM-1) and in proximal myotonic myopathy (PROMM/DM-2).

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Reduced cerebral blood flow and impaired visual-spatial function in proximal myotonic myopathy

28 November 2018

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Personality patterns in patients with myotonic dystrophy.

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Hyperkalemic periodic paralysis

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12 December 2020

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Paramyotonia congenita with an SCN4A mutation affecting cardiac repolarization

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Clinical characteristics of myotonic dystrophy type 1 patients with small CTG expansions

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12 December 2020

Electromyography guides toward subgroups of mutations in muscle channelopathies.

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12 December 2020

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

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

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[Proximal myotonial myopathy (PROMM): clinical and histology study]

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Mutations in SCN4A: A Rare but Treatable Cause of Recurrent Life-Threatening Laryngospasm

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Gastric and esophageal emptying in dystrophia myotonica. Effect of metoclopramide

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Myotonia fluctuans. A third type of muscle sodium channel disease

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12 December 2020

Asymptomatic myotonia congenita unmasked by severe hypothyroidism

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12 December 2020

Mexiletine is an effective antimyotonia treatment in myotonic dystrophy type 1

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12 December 2020

Cold extends electromyography distinction between ion channel mutations causing myotonia

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12 December 2020

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

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12 December 2020

Novel muscle chloride channel (CLCN1) mutations in myotonia congenita with various modes of inheritance including incomplete dominance and penetrance

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12 December 2020

Natural history of skeletal muscle involvement in myotonic dystrophy type 1: a retrospective study in 204 cases

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12 December 2020

On the repetitive discharge in myotonic muscle fibres

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12 December 2020

Autosomal dominant monosymptomatic myotonia permanens

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12 December 2020

Progressive myopathy in hyperkalemic periodic paralysis

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12 December 2020

Genealogical reconstruction of myotonic dystrophy in the Saguenay-Lac-Saint-Jean area (Quebec, Canada)

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12 December 2020

Ribonuclear inclusions in skeletal muscle in myotonic dystrophy types 1 and 2

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12 December 2020

Chloride channels in myotonia congenita assessed by velocity recovery cycles

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12 December 2020

Natural history of cardiac involvement in myotonic dystrophy: Correlation with CTG repeats

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12 December 2020

Fluctuating clinical myotonia and weakness from Thomsen's disease occurring only during pregnancies

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12 December 2020