Congenital myasthenic syndrome patients due to AChR epsilon subunit mutations

Eitemau Tebyg

• Correlation between polymorphisms in the AChR gamma and delta subunit promoters and clinical phenotype in AChR deficiency patients
  gan: Bonifati, D, et al.
  Cyhoeddwyd: (2004)
• Myasthenia gravis in a woman with congenital AChR deficiency due to epsilon-subunit mutations.
  gan: Croxen, R, et al.
  Cyhoeddwyd: (2002)
• End-plate gamma- and epsilon-subunit mRNA levels in AChR deficiency syndrome due to epsilon-subunit null mutations.
  gan: Croxen, R, et al.
  Cyhoeddwyd: (2001)
• AChR deficiency due to epsilon-subunit mutations: two common mutations in the Netherlands.
  gan: Faber, C, et al.
  Cyhoeddwyd: (2009)
• Splice-site mutations in the achr epsilon subunit gene associated with congenital myasthenic syndrome
  gan: Croxen, R, et al.
  Cyhoeddwyd: (2000)