Abstract
A case of stiffness from childhood and episodes of transient weakness which in later life to mild proximal weakness. It was associated with muscle hypertrophy and myotonia. Two mutations were found in the chloride channel gene, CLCN1 consistent with a diagnosis of recessive myotonia congenita
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Reference
Raja Rayan DL, Hanna MG. Skeletal muscle channelopathies: nondystrophicmyotonias and periodic paralysis. Curr Opin Neurol. 2010;23:466–76.
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Rayan, D.L.R., Hanna, M.G. (2017). When Is Myotonia Not Caused By Myotonic Dystrophy?. In: Manji, H., Turner, C., Evans, M. (eds) Neuromuscular Disease . Springer, London. https://doi.org/10.1007/978-1-4471-2389-7_32
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DOI: https://doi.org/10.1007/978-1-4471-2389-7_32
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