Abstract
A case of inherited episodes of weakness and myotonia from childhood progressing in middle age to fixed proximal weakness. A mutation was found in the sodium channel, SCN4A consistent with hyperkalaemic periodic paralysis.
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Reference
Raja Rayan DL, Hanna MG. Skeletal muscle channelopathies: nondystrophic myotonias and periodic paralysis. Curr Opin Neurol. 2010;23:466–76.
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Rayan, D.L.R., Hanna, M.G. (2017). Myotonia and Paralysis-Two Syndromes, One Diagnosis. In: Manji, H., Turner, C., Evans, M. (eds) Neuromuscular Disease . Springer, London. https://doi.org/10.1007/978-1-4471-2389-7_33
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DOI: https://doi.org/10.1007/978-1-4471-2389-7_33
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