Abstract
A case of onset of episodes of weakness in teens, cardiac arrhythmias in childhood and facial dysmorphism. A mutation was found in the potassium channel KCNJ2 consistent with a diagnosis of Andersen-Tawil Syndrome.
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References
Raja Rayan DL, Hanna MG. Skeletal muscle channelopathies: nondystrophic myotonias and periodic paralysis. Curr Opin Neurol. 2010;23:466–76.
Rajakulendran S, Tan SV, Hanna MG. Muscle weakness, palpitations and a small chin: the Andersen-Tawil syndrome. Pract Neurol. 2010;10(4):227–31.
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Rayan, D.L.R., Hanna, M.G. (2017). Paralysis Is Only a Part of the Problem. In: Manji, H., Turner, C., Evans, M. (eds) Neuromuscular Disease . Springer, London. https://doi.org/10.1007/978-1-4471-2389-7_45
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DOI: https://doi.org/10.1007/978-1-4471-2389-7_45
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