The spectrum of mutations that underlie the DOK7 neuromuscular junction synaptopathy, and the patient response to treatment

Eitemau Tebyg

• The spectrum of mutations that underlie the neuromuscular junction synaptopathy in DOK7 congenital myasthenic syndrome.
  gan: Cossins, J, et al.
  Cyhoeddwyd: (2012)
• Dok-7 mutations underlie a neuromuscular junction synaptopathy.
  gan: Beeson, D, et al.
  Cyhoeddwyd: (2006)
• Clinical features of the DOK7 neuromuscular junction synaptopathy.
  gan: Palace, J, et al.
  Cyhoeddwyd: (2007)
• Ephedrine treatment in DOK7 CMS and investigation of potential mechanisms
  gan: Cossins, J, et al.
  Cyhoeddwyd: (2010)
• Ephedrine treatment in congenital myasthenic syndrome due to mutations in DOK7.
  gan: Lashley, D, et al.
  Cyhoeddwyd: (2010)