Associated Papers
Novel compound heterozygous mutations in SCN4A as a potential genetic cause contributing to myopathic manifestations: A case report and literature review.
Han JY et al.
Heliyon, 2024
p.Asn1180Ile mutation of SCN4A gene in an Italian family with myopathy and myotonic syndrome.
Rigamonti A et al.
Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2021
Myotonic Myopathy With Secondary Joint and Skeletal Anomalies From the c.2386C>G, p.L769V Mutation in SCN4A.
Elia N et al.
Frontiers in Neurology, 2020
Clinical and Molecular Spectrum of Myotonia and Periodic Paralyses Associated With Mutations in SCN4A in a Large Cohort of Italian Patients.
Maggi L et al.
Frontiers in Neurology, 2020
De novo variant in SCN4A causes neonatal sodium channel myotonia with general muscle stiffness and respiratory failure.
Pechmann A et al.
Neuromuscular Disorders : Nmd, 2019
A Novel De Novo Heterozygous SCN4a Mutation Causing Congenital Myopathy, Myotonia and Multiple Congenital Anomalies.
Waldrop M et al.
Journal of Neuromuscular Diseases, 2019
Novel Mutations in SCN4A Gene Cause Myotonia Congenita with Scoliosis.
Xu YQ et al.
Chinese Medical Journal, 2018
New phenotype and neonatal onset of sodium channel myotonia in a child with a novel mutation of SCN4A gene.
Fusco C et al.
Brain & Development, 2015
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