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Scientific Reports|November 28, 2019
Myotonia in a patient with a mutation in an S4 arginine residue associated with hypokalaemic periodic paralysis and a concomitant synonymous CLCN1 mutationMichael G Thor, Vinojini Vivekanandam, Marisol Sampedro-Castañeda, et al.
Brain : a Journal of Neurology|February 26, 2016
In vivo impact of presynaptic calcium channel dysfunction on motor axons in episodic ataxia type 2Susan E Tomlinson, S Veronica Tan, David Burke, et al.
Neuromuscular Disorders : NMD|December 7, 2010
Infantile onset myofibrillar myopathy due to recessive CRYAB mutationsKatharine M L Forrest, Safa Al-Sarraj, Caroline Sewry, et al.
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