Congenital myasthenic syndrome caused by prolonged acetylcholine receptor channel openings due to a mutation in the M2 domain of the epsilon subunit.

Benzer Materyaller

• Mutation causing congenital myasthenia reveals acetylcholine receptor β/δ subunit interaction essential for assembly
  Yazar:: Quiram, Polly A., ve diğerleri
  Baskı/Yayın Bilgisi: (1999)
• Fundamental Gating Mechanism of Nicotinic Receptor Channel Revealed by Mutation Causing a Congenital Myasthenic Syndrome
  Yazar:: Wang, Hai-Long, ve diğerleri
  Baskı/Yayın Bilgisi: (2000)
• Slow-Channel Myasthenic Syndrome Caused By Enhanced Activation, Desensitization, and Agonist Binding Affinity Attributable to Mutation in the M2 Domain of the Acetylcholine Receptor α Subunit
  Yazar:: Milone, Margherita, ve diğerleri
  Baskı/Yayın Bilgisi: (1997)
• Myasthenic syndrome due to defects in rapsyn: Clinical and molecular findings in 39 patients
  Yazar:: Milone, M, ve diğerleri
  Baskı/Yayın Bilgisi: (2009)
• Rapsyn Mutations in Humans Cause Endplate Acetylcholine-Receptor Deficiency and Myasthenic Syndrome
  Yazar:: Ohno, Kinji, ve diğerleri
  Baskı/Yayın Bilgisi: (2002)