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

Antzeko izenburuak

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