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

Geahča maid

• Mutations in GFPT1 that underlie limb-girdle congenital myasthenic syndrome result in reduced cell-surface expression of muscle AChR.
  Dahkki: Zoltowska, K, et al.
  Almmustuhtton: (2013)
• Congenital myasthenic syndrome patients due to AChR epsilon subunit mutations
  Dahkki: Bonifati, D, et al.
  Almmustuhtton: (2004)
• Congenital Myasthenic Syndrome and AChR Mutation
  Dahkki: J Gordon Millichap
  Almmustuhtton: (2000-09-01)
• Structural abnormalities of the AChR caused by mutations underlying congenital myasthenic syndromes.
  Dahkki: Beeson, D, et al.
  Almmustuhtton: (2003)
• Congenital Myasthenic Syndromes: End-Plate AChR Lack
  Dahkki: J Gordon Millichap
  Almmustuhtton: (1998-02-01)