Associated Papers
Severe Adult-Onset Non-Dystrophic Myotonia With Apnea and Laryngospasm Due to Digenic Inheritance of SCN4A and CLCN1 Variants: A Case Report.
Tugizova M et al.
Neurology. Genetics, 2025
Genetic spectrum and founder effect of non-dystrophic myotonia: a Japanese case series study.
Yuan JH et al.
Journal of Neurology, 2022
Case report: Sodium and chloride muscle channelopathy coexistence: A complicated phenotype and a challenging diagnosis.
Pagliarani S et al.
Frontiers in Neurology, 2022
EF hand-like motif mutations of Nav1.4 C-terminus cause myotonic syndrome by impairing fast inactivation.
Horie R et al.
Muscle & Nerve, 2020
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