CHRND mutation causes a congenital myasthenic syndrome by impairing co-clustering of the acetylcholine receptor with rapsyn.

مواد مشابهة

• The role of Rapsyn in neuromuscular junction and congenital myasthenic syndrome
  حسب: Xufeng Liao, وآخرون
  منشور في: (2023-09-01)
• Fast-channel congenital myasthenic syndrome with a novel acetylcholine receptor mutation at the α-ε subunit interface
  حسب: Webster, R, وآخرون
  منشور في: (2014)
• Fast-channel congenital myasthenic syndrome with a novel acetylcholine receptor mutation at the α-ε subunit interface.
  حسب: Webster, R, وآخرون
  منشور في: (2014)
• The congenital myasthenic syndrome mutation RAPSN N88K derives from an ancient Indo-European founder
  حسب: Muller, J, وآخرون
  منشور في: (2004)
• The congenital myasthenic syndrome mutation RAPSN N88K derives from an ancient Indo-European founder.
  حسب: Müller, J, وآخرون
  منشور في: (2004)