Mutations in GFPT1 that underlie limb-girdle congenital myasthenic syndrome result in reduced cell-surface expression of muscle AChR.

K. Zoltowska,R. Webster,S. Finlayson,S. Maxwell,J. Cossins,Juliane S. Müller,Hanns Lochmüller,D. Beeson

Published 2013 in Human Molecular Genetics

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