Associated Papers
Genetic spectrum and founder effect of non-dystrophic myotonia: a Japanese case series study.
Yuan JH et al.
Journal of Neurology, 2022
Targeted Therapies for Skeletal Muscle Ion Channelopathies: Systematic Review and Steps Towards Precision Medicine.
Desaphy JF et al.
Journal of Neuromuscular Diseases, 2021
Pathological findings in a patient with non-dystrophic myotonia with a mutation of the SCN4A gene; a case report.
Hata T et al.
Bmc Neurology, 2019
Structure of the human voltage-gated sodium channel Nav1.4 in complex with β1.
Pan X et al.
Science (new York, N.y.), 2018
A novel Ile1455Thr variant in the skeletal muscle sodium channel alpha-subunit in a patient with a severe adult-onset proximal myopathy with electrical myotonia and a patient with mild paramyotonia phenotype.
Bednarz M et al.
Neuromuscular Disorders : Nmd, 2017
Skeletal muscle na channel disorders.
Simkin D et al.
Frontiers in Pharmacology, 2011
Skeletal-muscle channelopathies: periodic paralysis and nondystrophic myotonias.
Ryan AM et al.
Current Opinion in Neurology, 2007
A large German kindred with cold-aggravated myotonia and a heterozygous A1481D mutation in the SCN4A gene.
Schoser BG et al.
Muscle & Nerve, 2007
Diagnostics in skeletal muscle channelopathies.
Vicino A et al.
Expert Review of Molecular Diagnostics, 0
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