Myotonia Congenita Can Be Mistaken as Paroxysmal Kinesigenic Dyskinesia [PDF]
Journal of Movement Disorders, 2018 Aryun Kim +6 more
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High-dose flecainide for symptomatic relief in paramyotonia congenita/severe neonatal episodic laryngospasm due to SCN4A G1306E: a case report [PDF]
Journal of Medical Case ReportsBackground Severe neonatal episodic laryngospasm has been previously reported in multiple patients with the heterozygous pathogenic variant G1306E in SCN4A.
Vanessa Ogueri +6 more
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The Clinical, Myopathological, and Genetic Analysis of 20 Patients With Non-dystrophic Myotonia
Frontiers in Neurology, 2022 IntroductionNon-dystrophic myotonias (NDMs) are skeletal muscle ion channelopathies caused by CLCN1 or SCN4A mutations. This study aimed to describe the clinical, myopathological, and genetic analysis of NDM in a large Chinese cohort.MethodsWe reviewed ...
Quanquan Wang +6 more
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Becker congenital myotonia in black African with molecular findings
Egyptian Journal of Medical Human Genetics, 2022 Background Congenital myotonia is a congenital disorder that affects skeletal muscles with myotonia. Affected muscles show stiffness and pain sometimes. The two major types of myotonia congenita are known as Thomsen disease and Becker disease.
Simon Azonbakin +6 more
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Novel Mutations in SCN4A Gene Cause Myotonia Congenita with Scoliosis [PDF]
Chinese Medical Journal, 2018 Yang-Qi Xu +5 more
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Myotonia congenita-associated mutations in chloride channel-1 affect zebrafish body wave swimming kinematics. [PDF]
PLoS ONE, 2014 Myotonia congenita is a human muscle disorder caused by mutations in CLCN1, which encodes human chloride channel 1 (CLCN1). Zebrafish is becoming an increasingly useful model for human diseases, including muscle disorders.
Wei Cheng +4 more
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Myotonia congenita mutation enhances the degradation of human CLC-1 chloride channels. [PDF]
PLoS ONE, 2013 Myotonia congenita is a hereditary muscle disorder caused by mutations in the human voltage-gated chloride (Cl(-)) channel CLC-1. Myotonia congenita can be inherited in an autosomal recessive (Becker type) or dominant (Thomsen type) fashion.
Ting-Ting Lee +7 more
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Myotonia Congenita: Case Report of Becker's Variant
Boğaziçi Tıp Dergisi, 2022 Myotonia is a finding caused by muscle hyperexcitability and occurs as a result of delayed relaxation. The two disease groups in which myotonia is seen are myotonic dystrophy from muscular dystrophies and non-dystrophic myotonias from muscle ion channel ...
Okan Akşahin, Mehmet Güney Şenol
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Sodium channel slow inactivation as a therapeutic target for myotonia congenita [PDF]
Annals of Neurology, 2015 Mark M Rich
exaly +2 more sources
Frontiers in Neurology, 2022 Non-dystrophic myotonias (NDM) encompass chloride and sodium channelopathy. Mutations in CLCN1 lead to either the autosomal dominant form or the recessive form of myotonia congenita (MC).
Serena Pagliarani +5 more
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