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

Eitemau Tebyg

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