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Case report

First published

A de novo Mutation in the SCN4A Gene Causing Sodium Channel Myotonia

Kristin Ørstavik, Sean Ciaran Wallace, Torberg Torbergsen [...]

Journal of Neuromuscular Diseases

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Research article

First published 2015-9

Use of Clinical and Electrical Myotonia to Differentiate Childhood Myopathies

Partha S. Ghosh, Eric J. Sorenson

Journal of Child Neurology

Open access

Research article

First published 2023-09-08

Clinical and Genetic Spectrum of Myotonia Congenita in Turkish Children

Gökçen Öz Tunçer, Aslıhan Sanri, Seren Aydin [...]

Journal of Neuromuscular Diseases

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Review article

First published 1996-07

REVIEW ■ : Chloride Channel Myotonias

Klaus Steinmeyer, Thomas J. Jentsch

The Neuroscientist

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Research article

First published 2018-7-22

Beyond the muscular involvement in non-dystrophic myotonias: The emerging role of neuromodulation

Simona Portaro, Antonino Naro, Alessia Bramanti [...]

Restorative Neurology and Neuroscience

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Research article

First published 2001-2

Anaesthesia and Myotonia—An Australian Experience

A. R. Imison

Anaesthesia and Intensive Care

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Research article

First published 2019

A Novel De Novo Heterozygous SCN4a Mutation Causing Congenital Myopathy,Myotonia and Multiple Congenital Anomalies

Megan Waldrop, Jakkrit Amornvit, Christopher R. Pierson [...]

Journal of Neuromuscular Diseases

Open access

Research article

First published 2024-04-30

A c.1775C > T Point Mutation of Sodium Channel Alfa Subunit Gene (SCN4A) in a Three-Generation Sardinian Family with Sodium Channel Myotonia

Carmen Campanale, Paola Laghetti, Ilaria Saltarella [...]

Journal of Neuromuscular Diseases

Free access

Research article

First published 1923-5

Dystrophia Myotonica (Myotonia Atrophica),an Heredo-familial Disease with Cataract

W. J. Adie

Journal of the Royal Society of Medicine

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Research article

First published 1913-4

Metabolism studies in a case of myotonia atrophica

Jacob Rosenbloom, Benson A. Cohoe

Experimental Biology and Medicine

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