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- W2972432928 abstract "Variants of the skeletal muscle sodium channel gene SCN4A are associated with different neuromuscular disorders including sodium channel myotonia. Here, we report an infant with a de novo variant in SCN4A presenting with neonatal onset of severe muscle stiffness with involvement of facial and eyelid muscles, and life-threatening events with respiratory failure due to severe apnoea and thorax rigidity. The boy dramatically improved in both respiratory and motor function under carbamazepine therapy." @default.
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- W2972432928 date "2019-11-01" @default.
- W2972432928 modified "2023-10-17" @default.
- W2972432928 title "De novo variant in SCN4A causes neonatal sodium channel myotonia with general muscle stiffness and respiratory failure" @default.
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- W2972432928 doi "https://doi.org/10.1016/j.nmd.2019.09.001" @default.
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