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Chaouch, A.; Mueller, J. S.; Guergueltcheva, V.; Muntoni, F.; Bushby, K.; Straub, V.; Palace, J.; Beeson, D.; Abicht, A. and Lochmüller, H. (2012): The clinical phenotypic spectrum of GFPT1 associated congenital myasthenic syndrome. In: Journal of neurology, neurosurgery, and psychiatry, Vol. 83, No. 3, e1 [PDF, 49kB]

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