Congenital myasthenic syndrome associated with epidermolysis bullosa caused by homozygous mutations in PLEC1 and CHRNE

Ra Maselli, J. Arredondo, O. Cagney, T. Mozaffar, S. Skinner, S. Yousif, Rr Davis, Jp Gregg, M. Sivak, Th Konia, K. Thomas, Rl Wollmann

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Medicine & Life Sciences