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   Articles with "myotonia congenita" as a keyword



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P48-T Short exercise and short exercise with cooling tests in recessive myotonia congenita (Becker disease)

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recommendations! Published in 2019 at "Clinical Neurophysiology"

DOI: 10.1016/j.clinph.2019.04.411

Abstract: Background In myotonia congenita provocative tests may induce transient or persistent changes in compound motor action potential (CMAP) parameters. These changes are variable and correspond to partial inexcitability of the myotonic muscle membrane. Specific patterns… read more here.

Keywords: exercise; myotonia congenita; becker disease; short exercise ... See more keywords
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Clinical Utility Gene Card for: autosomal dominant myotonia congenita (Thomsen Disease)

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recommendations! Published in 2017 at "European Journal of Human Genetics"

DOI: 10.1038/s41431-017-0065-3

Abstract: Myotonia congenita is a genetic disease of skeletal muscle membrane hyperexcitability caused by variants in CLCN1, leading to reduced conductance of the main skeletal muscle chloride channel (ClC-1) [1]. This disorder can be inherited in… read more here.

Keywords: thomsen disease; myotonia congenita; autosomal dominant; disease ... See more keywords
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Clinical and molecular characteristics of myotonia congenita in China: Case series and a literature review

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recommendations! Published in 2022 at "Channels"

DOI: 10.1080/19336950.2022.2041292

Abstract: ABSTRACT Myotonia congenita (MC) is a rare genetic disease caused by mutations in the skeletal muscle chloride channel gene (CLCN1), encoding the voltage-gated chloride channel ClC-1 in skeletal muscle. Our study reported the clinical and… read more here.

Keywords: molecular characteristics; years range; myotonia congenita; range years ... See more keywords
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CLCN1 Molecular Characterization in 19 South-Italian Patients With Dominant and Recessive Type of Myotonia Congenita

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recommendations! Published in 2020 at "Frontiers in Neurology"

DOI: 10.3389/fneur.2020.00063

Abstract: Myotonia congenita is a genetic disease characterized by impaired muscle relaxation after forceful contraction (myotonia). It is caused by mutations in the CLCN1 gene, encoding the voltage-gated chloride channel of skeletal muscle, ClC-1. According to… read more here.

Keywords: type myotonia; myotonia congenita; becker; myotonia ... See more keywords
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Chaperone activity of niflumic acid on ClC-1 chloride channel mutants causing myotonia congenita

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recommendations! Published in 2022 at "Frontiers in Pharmacology"

DOI: 10.3389/fphar.2022.958196

Abstract: Myotonia congenita (MC) is an inherited rare disease characterized by impaired muscle relaxation after contraction, resulting in muscle stiffness. It is caused by loss-of-function mutations in the skeletal muscle chloride channel ClC-1, important for the… read more here.

Keywords: myotonia congenita; chaperone; expression; clc ... See more keywords
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Novel Mutations in SCN4A Gene Cause Myotonia Congenita with Scoliosis

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recommendations! Published in 2018 at "Chinese Medical Journal"

DOI: 10.4103/0366-6999.225061

Abstract: Myotonia congenita (MC) is a group of genetically and clinically heterogeneous congenital neuromuscular channelopathies, typically characterized by the delayed relaxation of the muscles after voluntary contraction, stiffness, hypertrophy, transient weakness, and cramping. MC is caused… read more here.

Keywords: myotonia congenita; novel mutations; channel; mutations scn4a ... See more keywords
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Value of short exercise and short exercise with cooling tests in diagnosis of recessive form of myotonia congenita (Becker disease) - are sex differences important?

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recommendations! Published in 2022 at "Neurologia i neurochirurgia polska"

DOI: 10.5603/pjnns.a2022.0051

Abstract: INTRODUCTION In myotonia congenita (MC), activation with exercise or cooling can induce transient changes in compound motor action potential (CMAP) parameters, thus providing a guide to genetic analysis. MATERIAL AND METHODS We performed the short… read more here.

Keywords: bmc; becker disease; short exercise; myotonia congenita ... See more keywords