Associated Papers
Prevalence of genetically confirmed skeletal muscle channelopathies in the era of next generation sequencing.
Vivekanandam V et al.
Neuromuscular Disorders : Nmd, 2023
Myotonia congenita: mutation spectrum of CLCN1 in Spanish patients.
Milla CP et al.
Journal of Genetics, 2019
A SCN4A mutation causing paramyotonia congenita.
Palma C et al.
Neuromuscular Disorders : Nmd, 2017
Skeletal Muscle Channelopathies: Rare Disorders with Common Pediatric Symptoms.
Matthews E et al.
The Journal of Pediatrics, 2017
Non-dystrophic myotonia: prospective study of objective and patient reported outcomes.
Trivedi JR et al.
Brain : a Journal of Neurology, 2013
A quantitative measure of handgrip myotonia in non-dystrophic myotonia.
Statland JM et al.
Muscle & Nerve, 2012
De novo SCN1A mutations are a major cause of severe myoclonic epilepsy of infancy.
Claes L et al.
Human Mutation, 2003
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