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
SCN4A-related congenital myopathy in a Han Chinese patient: A case report and literature review.
Chan TY et al.
Heliyon, 2024
38187266 (PubMed )
Supplement: mmc2.xlsx › Summary
New Challenges Resulting From the Loss of Function of Nav1.4 in Neuromuscular Diseases.
Nicole S et al.
Frontiers in Pharmacology, 2021
Improving genetic diagnostics of skeletal muscle channelopathies.
Vivekanandam V et al.
Expert Review of Molecular Diagnostics, 2020
Sodium Channelopathies of Skeletal Muscle.
Cannon SC
Handbook of Experimental Pharmacology, 2018
Loss-of-function mutations in SCN4A cause severe foetal hypokinesia or 'classical' congenital myopathy.
Zaharieva IT et al.
Brain : a Journal of Neurology, 2016
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