Fast-channel congenital myasthenic syndrome with a novel acetylcholine receptor mutation at the α-ε subunit interface

Antzeko izenburuak

• Fast-channel congenital myasthenic syndrome with a novel acetylcholine receptor mutation at the α-ε subunit interface.
  nork: Webster, R, et al.
  Argitaratua: (2014)
• Novel mutation in the muscle acetylcholine receptor a-subunit underlies a fast channel congenital myasthenic syndrome
  nork: Webster, R, et al.
  Argitaratua: (2002)
• Arthrogryposis multiplex congenita associated with congenital myasthenic syndrome due to mutations in the acetylcholine receptor delta subunit
  nork: Brownlow, S, et al.
  Argitaratua: (2000)
• CHRND mutation causes a congenital myasthenic syndrome by impairing co-clustering of the acetylcholine receptor with rapsyn.
  nork: Müller, J, et al.
  Argitaratua: (2006)
• Acetylcholine receptor delta subunit mutations underlie a fast-channel myasthenic syndrome and arthrogryposis multiplex congenita.
  nork: Brownlow, S, et al.
  Argitaratua: (2001)